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Peds GI > General GI > Flashcards

General GI Flashcards

1
Q

Acid ingestions versus basic cause what type of necrosis?

A

Acid: coagulation necrosis
Basic: liquefaction necrosis –> 1000 fold lifetime risk for developing esophageal CA

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2
Q

Meds that affect tacrolimus level

A

Increase level: Azole antifungals, calcium channel blockers, and macrolides inhibit the P450 system
Decrease level: Antiseizure agents (such as dilantin) and anti-TB agents can induce the P450 system

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3
Q

Metoclopramide MOA

A

Inhibition of D2 and 5-HT3-> anti-emetic effcts

Stimulation of 5-HT4 with release of Ach->prokinetic effects

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4
Q

Reye’s Syndrome

A

Reye’s syndrome involves mitochondrial defects in fatty acid oxidation, caused by a double insult of viral infection (flu, gastroenteritis) and mitochondrial toxins (i.e. salicylates). It is best characterized as an event occurring after aspirin is given for a viral illness, and presents as vomiting/lethargy followed by encephalopathy and hepatocyte damage (ALT and AST 3X > normal). Liver biopsies show microvesicular steatosis without necrosis, and electron microscopy shows mitochondrial changes. Bilirubin levels are usually normal or only slightly increased, and if cholestasis is present other diagnoses should also be considered.

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5
Q 
What is the most sensitive indicator for renal cyclosporine toxicity?
A. cyclosporine level
B. blood pressure
C. GFR calculated using creatinine
D. Creatinine
E. GFR based on inulin
A

E
Cyclosporine binds with cyclophilin, which in turn inhibits calcineurin. Active calcineurin normally dephosphorylates nuclear factor of activated T cells (NFAT-1), allowing it to enter the nucleus and promote transcription of IL-2 and other pro-T and B cell cytokines. Hence, cyclosporine is known as a calcineurin inhibitor (Tacrolimus works in a similar way, binding to its partner FK-506 binding protein to inhibit calcineurin).
Cyclosporine causes two forms of renal toxicity: acute and chronic. Acute toxicity is characterized by afferent and efferent arteriole vasoconstriction, secondary to endothelial cell dysfunction. This results in a drop in GFR and acute renal failure. Chronic toxicity occurs from vasoconstriction leading to ischemia and structural changes in the kidneys. Acute toxicity is reversible by withdrawing the medication, whereas chronic toxicity is thought to be permanent.
Clinically, patients with cyclosporine toxicity present with decreased GFR. They have hypertension secondary to sodium/volume retention, as the kidneys try to preserve perfusion in the setting of arteriole constriction. The lowered GFR also leads to an increase in BUN and creatinine. Hence, the most sensitive test to determine toxicity would be one that identifies an impaired GFR. Inulin, an inert substance that is freely filtered through the glomerulus and not reabsorbed, is used to accurately determine GFR.

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6
Q 
A 7 month old infant is brought to you for evaluation because of recurrent vomiting and lethargy for 3 months. Dietary history reveals that she was exclusively breastfed until 5 months and her diet now consists of cereal, fruits, fruit juice, and vegetables. What enzyme deficiency is likely?
A. fructose-6-phosphate
B. triokinase
C. aldolase B
D. lactase
E. sucrase isomaltase
A

c Aldolase B
This patient tolerates lactose from breast milk but does not tolerate foods with sucrose/fructose (lactose is a disaccharide made from glucose and galactose, whereas sucrose is a disaccharide made from glucose and fructose). Sucrose is digested by the brush border enzyme complex sucrose isomaltase, which has both sucrase and alpha1,6 dextrin hydrolyzing activity. Deficiencies in this enzyme result in sugar malabsorption and diarrhea.
Fructose, once transported into the enterocytes by facilitate diffusion, becomes phosphorylated to fructose-1-phosphate by fructokinase. Aldolase B then controls the fate of the molecule, cleaving it into products that enter the glycolytic, gluconeogenic, or glycogen synthesis pathways. Without this enzyme, fructose-1-phosphate accumulates. Such patients with hereditary fructose intolerance develop poor feeding, vomiting, lethargy, hypoglycemia, failure

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7
Q 
Cobalamin (Vitamin B12) absorption may be impaired in each of the following conditions EXCEPT:
A. pernicious anemia
B. cholestatic jaundice
C. Crohn’s ileitis
D. Zollinger-Ellison syndrome
E. Small bowel bacterial overgrowth
F. Pancreatic insufficiency
A 
B. 
Vitamin B12 (cobalamin) comes mainly from the cobalamin-containing meats, but gut bacteria produce small amounts that are absorbed. The absorption of B12 from foodstuffs is a well-characterized process. First, cobalamin must make it through the acidic stomach, by binding to haptocorrin (R binder) at low pH. Most of the gastric haptocorrin originates from saliva. In the duodenum, pancreatic proteases activate in the presence of bicarbonate, hydrolyze haptocorrin, and liberate cobalamin. The cobalamin in turn binds to intrinsic factor (made by gastric parietal cells) and becomes resistant to pancreatic proteases. The cobalamin/intrinsic factor complex binds to an ileal brush border receptor and enters enterocytes.
Given this sequence, B12 absorption can be impaired at multiple steps. Pernicious anemia leads to low intrinsic factor, due to autoimmune attack on parietal cells. Zollinger-Ellison syndrome causes the duodenum to be too acidic, preventing protease activation and degradation of the haptocorrin/cobalamin complex. In the same way, pancreatic insufficiency prevents degradation of haptocorrin/cobalamin. Bacterial overgrowth in the small intestine disrupts the cobalamin/intrinsic factor interaction, and ileal disease affects cobalamin/intrinsic factor binding at the ileal brush border. Cholestasis does not alter B12 absorption. Bile does contain haptocorrin, but salivary haptocorrin is clinically the most important.
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8
Q

Which of the following is not a recognized disease association of hepatitis C viral infection?
A. Cryoglobulinemia
B. Porphyria cutanea tarda
C. Membranoproliferative glomerulonephritis
D. Diabetes mellitus
E. Increased risk of myocardial infarction

A

E.
There are many extrahepatic manifestations of Hepatitis C. Cryoglobulinemia occurs when Hepatitis C-antibody complexes form in the blood. “Mixed” cryoglobulinemia refers to complexes with IgG against the Hepatitis C antigen and IgM against the IgG. To diagnose cryoglobulinemia, blood samples must be kept warm because the complexes precipitate when cooled.
Porphyria cutanea tarda is a common skin manifestation of Hepatitis C. As a result of liver dysfunction, the UROD gene (uroporphyrinogen decarboxylase) is impaired, heme synthesis is halted, and porphyrins build up. The porphyrins collect in the skin absorb visible violet light, producing free radicals that damage nearby tissue. In the skin, the most common findings are erosions, blisters, and scarring.
Membranoproliferative glomerulonephritis is also seen with Heptitis C, perhaps from a vasculitis produced by the antibody-antigen complexes. Diabetes mellitus (adult-onset, insulin resistant) is 4X more likely in Hepatitis C patients for unknown reasons. Some have speculated that the antibody response induced by Hepatitis C results in an autoimmune attack of the pancreas. No association between Hepatitis C and myocardial infarction has been demonstrated.

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9
Q

Sorbitol ingestion

A

Soft drinks and sugar free gum

Can cause persistent, osmotic diarrhea. Abdominal pain and bloating

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10
Q

DNA hepatitis virus

A

HBV

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11
Q

Hepatitis virus-RNA and without envelope

A

HEV and HAV

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12
Q

HEV transmission

When is it most dangerous?

A

spread through contaminated water. Most dangerous during pregnancy

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13
Q

Pancreatitis genes

A

CFTR, PRSS1, CTC1, SPINK 1

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14
Q

sTIMULANTS OF ACID

A

Gastrin, Histamine, Ach

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15
Q

Hirschprungs Disease stain

A

AchE

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16
Q

HD gene and its association

A

Ret gene

Ret also assc with MEN2B

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17
Q

Delayed Gastric emptying

A

> 90% at 1 hr
60% at 3 hrs
10% at 4 hrs

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18
Q

Rapid gastric emptying

A

retained meal <30% at 1 hr

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19
Q

Alagille

A 
ductopenia (<8 ducts per portal tract)
paucity of interlobular bile ducts
cholestasis 2/2impaired micelle formation 
JAG1/NOTCH 2
pulmonic stenosis
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20
Q

Lactose breath test indicative of lactose malabsorption

A

increase in H by 20 ppm in >3 hrs is positive or failure of blood sugar to rise to 20 by 30 min after ingestion

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21
Q

breath test for SIBO

A

Rise for than 20 in <90 min

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22
Q

toxic megacolon

A

transverse colon > 56 mm

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23
Q

Normal sensation for ARM

A

30-40 mL

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24
Q

Normal Urge for ARM

A

90-110 mL

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25
Q

MMC where in stomach

A

Fundus

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26
Q

Resting tone of LES

A

~20 mmHg

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27
Q

Microvillus inclusion Ds mutation

A

MYO5B

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28
Q

Tufting enteropathy mutation

A

SPRINT2

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29
Q

IBD pANCA

A

UC

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30
Q

IBD ASCA

A

CD

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31
Q

Vedolizumab

A

Entyvio

IgG monoclonal Ab against B7 intern

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32
Q

Tofacitinib

A

Xeljanz

Selective JAK1 and JAK3 inhibitor

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33
Q

What is assc with strictures and perfs in CD

A

Anti-12 and OmpC

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34
Q

What mutation causes severe colitis in young patients

A

IL-10

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35
Q

Where is protein stuck in A1AT Deficiency

A

ER (PAS +)

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36
Q

Hepatoblastoma associations

A 
Beckwidth Weidemann
FAP
Trisomy 18
GSD Type 1
Li-Fraumen Syn
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37
Q

HCC Associations

A

PFIC
BA
A1AT
Tyrosinemia

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38
Q

Fibrolamellar CA

A

variant of HCC
Normal AFP
homogenous lesion with central scar
poor prognosis

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39
Q

Infantile Hemangioma association

A

Hemihypertrophy

Beckwidth-Weidemann

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40
Q

Focal Nodular Hyperplasia

A

Central vascular stellate scar (compare to Fibrolamellar CA)

On CT, hypoattenuates early and enhances on DELAYED images UNLIKE fibrolamellar CA

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41
Q

Drug likely to affect VIt D

A

Phenytoin

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42
Q

Vit E deficiency

A

loss of position sense

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43
Q

Selenium deficiency

A

decrease glutathione peroxidase (muscle weakness)
cardiac fibrosis
hypopigmentation

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44
Q

Essential FA deficiency

A 
Omega 6
Scaly rash, Thrombocytopenia, FTT
Linoleic Acid deficiency increases production
of Mead Acid via Omega 9 pathway
•Triene:Tetraene ratio < 0.05 Normal
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45
Q

Copper deficiency

A

neutropenia
anemia
bone abnormalities

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46
Q

Zinc deficiency

A

acrodermatitis enteropathica
FTT
diarrhea
muscle weakness

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47
Q

Manganese toxicity

A

-basal ganglia deposition

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48
Q

Copper toxiticity

A

Hepatotoxicity

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49
Q

Aluminum toxicity

A

bone deposition

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50
Q

Is fat, protein or starch most likely to be poorly digested in a 4 month old

A

Starch

Protein is best

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51
Q

Human milk has higher or lower quantity of protein than formula

A

lower

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52
Q

Galactokinase deficiency

A

cataracts

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53
Q

GSD Type 2

A

Pompe’s = cardiomegaly

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54
Q

GSD Type I

A

Von Gierke disease. It is caused by a deficiency is glucose-6-phosphatase, the last step in glycogenolysis (and the final step in gluconeogenesis). Patients have doll-like facies and hepatomegaly, and laboratory results are significant for marked hypoglycemia and lactic acidosis. Patients usually present when they begin to sleep through the night and have longer periods without feeds. Treatment includes frequent glucose feeds during the day and continuous feeds at night, usually with uncooked starch that releases glucose slowly.

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55
Q

Hep A outbreak in daycare with kids that do not wear diapers. Admin Immunoglobulin?

A

Admin to kids only

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56
Q

Y/N

Prophylactic chole in DM

A

Y

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57
Q

Only DNA hepatitis virus

A

HBV

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58
Q

PFIC 1 gene

A

ATPB8

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59
Q

PFIC2 gene

A

ABC11

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60
Q

PFIC 3 gene

A

ABCB4
portal tract fibrosis (not seen with PFIC 1/2)
elevated GGT

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61
Q

LAL-D aka Wolman Ds

A

hepatocellalar micro vesicular steatosis with foamy/enlarged Kupffer cells
Unable to break down fats and cholesterol in cells, so increase cholesterol
Punctate adrenal calcifications, HSM, abdominal distention, FTT, steatorrhea

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62
Q

bethanachol MOA

A

cholinergic agonist

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63
Q

Olgilve Syndrome
What is it and what is treatment

A

Acute colonic psuedoobstruction syndrome

Tx with Neostigmine= acetylcholinesterase inhibitor

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64
Q

Lactose breath test would not be accurate with what Abx and in what conditions

A

TMP-SMX
Diabetic gastroparesis
Systemic Sclerosis
SBS

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65
Q

What is the most important factor that promotes IgA class switching

A

TGF B

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66
Q

Stool osmotic gap

A

290-2(Na + K)
>100= osmotic
<50=secretory

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67
Q

Non celiac sensitivity to wheat is due to ___

A

Fructan, most commonly inulin

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68
Q

Virulence factor produced by H pylori

A

Cag A–> more likely to get MALToma

H pylori also has Vac A which blocks proliferation of T cells (less likely to get MALToma)

Urease–>protects from gastric acid

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69
Q

Johanson Blizzard Syndrome

A 
AR
UBR1 mutation
EPI
small beaked nose (aplasia of alae ansi)
Normal LFTs
FTT
Short stature
Hypothyroidism
FTT
Sparse dry BLONDE hair
Micropenis and microdontia, hearing loss, DD, imperforate anus, VSD
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70
Q

Dubin Johnson

A

MRP2 gene, ABCC2
Black liver with conj hyperbili
normal LFTs
urine coproporphyrin compromises 80%

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71
Q

Rotor Syndrome

A

SLC01B1/SLC01B3
Conj hyperbili
total urine coproprophyrins are elevated 2 to 5 fold with 2/3 being coproporphyrins 1
Normal liver histology

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72
Q

UGTA1

A

Unconj hyperbili

Gilbert and Crigler Najjer

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73
Q

Celiac screening in kids < 2 yoa

A

Deamindated Gliadin peptide IgG

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74
Q

With what bug do you see demarcated cystic liver lesions with internal septations

A

Echinococcus granulosa

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75
Q

Alport Syndrome

A

Deafness
X linked dominant
Microscopic hematuria
Esophageal leiomatosis- no LES relaxation, high pressure with no propagating waves

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76
Q

Drugs with SE of pancreatitis

A

PEG asparaginase, 6MP and Mesalamine

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77
Q

Menetier

A

Assc with CMV

Can see PLE, periorbital edema, ascites and pericardial effusion

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78
Q

Hormones that stimulate appetite

A

Gherlin and Neuropeptide Y

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79
Q

Hormones that suppress appetite

A

Leptin, Peptide YY, GLP 1

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80
Q

Allgrove Syndrome

A

Triple A
Achalasia, Alacrima abd Adrenal insuff
AR
Aladdin gene

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81
Q

Syndromes with increased risk of achalasia

A 
Downs 
Rosycki (deafness, vitiligo, muscle wasting, short stature)
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82
Q

Factors in ALF

A

DECREASED 5,7,9 (made in hepatocyte)
NORMAL or high 8 (shortest half life) (made in endothelial cells)
In DIC, all are low

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83
Q

Toxin in amanitin-containing mushrooms inhibits

A

RNA synthesis

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84
Q

Tylenol OD

A

NAPQI which depletes glutathione, affects zone 3

NAC provides cysteine which increases glutathione

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85
Q

Diverticular ds in kids should make you think of what syndrome

A

Marfan

Fibrillin 1 gene

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86
Q

GALD

A

Presents in infancy

Hypoglycemia, hypoalbuminemia, coagulopathy, normal LFTs and elevated ferritin

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87
Q

Marsh Criteria

A

1: increased lymphocytes
2: crypt hyperplasia
3a: partial villous atrophy
3b: subtotal
3c: total

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88
Q

Juvenile polyposis gene

A

SMAD4 (more CA risk) and BMPR1A

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89
Q

reflux associated with

A

chronic otitis media

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90
Q

IBS associated with

A

previous salmonella infx

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91
Q

Thickened gastric folds

A

PGE

Menetiers

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92
Q

When do you see elevated BUN/Cr ratio? UGI or LGI bleed

A

UGI as urea is produced by blood (greater tan 30)

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93
Q

Octreatide

A

decreases gastrin synthesis
decreases gastric acid output and motility
decreases sphlanic flow

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94
Q

Can PPI increase tacro concentration

A

Yes, also increased MTX level

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95
Q

dUBIN joHNSON

A

MRP2 or ABCC22

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96
Q

Ascites

A

The concentration of albumin in serum minus the concentration of albumin in ascitic fluid, called the serum ascites albumin gradient, can reliably separate ascites into 2 categories: high gradient (≥1.1 g/dL) and low gradient (<1.1 g/dL). High-gradient ascites is present when there is portal hypertension, in conditions such as cirrhosis, fulminant hepatic failure, Budd-Chiari syndrome, and portal vein thrombosis. Low-gradient ascites occurs in the absence of portal hypertension in conditions such as peritoneal carcinomatosis, tuberculous peritonitis, pancreatic ascites, biliary leak ascites, nephrotic syndrome, and serositis.

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97
Q

Immunostaining for Tufting enteropathy vs microvillus inclusion

A

TE: MOC31
MVI:CD10

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98
Q

Ab for PSC

A

AMA

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99
Q

Ab with worst prognosis in AIH

A

SLA

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100
Q

diet for PLE

A

HIGH PROTEIN and LOW FAT

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101
Q

MEN 1

A

3 P’S
Pituitary adenoma
Parathyroid hyperplasia
Pancreatic tumor`

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102
Q

MEN 2A

A

Parathyroid hyperplasia, Medullary thyroid CA, Pheochromocytoma

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103
Q

MEN 2B

A

Mucosal neuromas, Marfanoid, MTC, Pheo

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104
Q

higher bioavailable ZINC Formula vs BM

A

BM

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105
Q

A1AT accumulates where

A

ER

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106
Q

What immunoglobulin is low in Type 2 AIH

A

IgA

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107
Q

Urine ketones negative with kid who had abnormal electrolytes Dx

A

MCAD

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108
Q

Ketogenic diet – what is most common GI complaint

A

Diarrhea and abdominal pain

Kidney stone

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109
Q

MC IBD med to give pancreatitis?

A

AZA

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110
Q

What cells produce antibodies in your gut mucosa?

A

M cells

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111
Q

Apomorphine where does it act?

A

Chemoreceptor

112
Q

Patient with refeeding, edema and cardiac failure. They are deficient in what Vitamin?

A

Thiamine

113
Q

Short stature with ok weight that will have hyperconvex nails and cubitus valgus. Diagnosis?

A

Turner syndrome

114
Q

What peptides increase intragastric pressure?

A

Motilin, cck, somastatin

115
Q

Patient with increase liver enzymes, coagulation, increase INR, hemolytic anemia. Diagnosis

A

Wilson’s disease

116
Q

How to test for Trysinonemia

A

urine succinylacetone

117
Q

What type of kidney stones do you get in IBD

A

Oxalate

118
Q

TEF associated with…

A

VACTERL

119
Q

Most common reason for stenosis in distal esophagus

A

Tracheobronchial rest

120
Q

What do you see with Cricopharyngeal achalasia

A

Chiari malformation

121
Q

Chief cells what do they do?

A

protein metabolism because they secrete pepsinogen

122
Q

Celiac ds, should avoid what

A

Gluten, Barley and Rye

123
Q

What causes pancreatic enzyme secretion

A

CCK

124
Q

Congenital Cl diarrhea, do you see acidosis or alkalosis

A

metabolic alkalosis

125
Q

What Vitamin do you supplement in abetalipoproteinemia?

A

Vitamin E

126
Q

What is the active metabolite for 6-MP

A

6-TG

127
Q

Egg diarrhea caused by

A

Salmonella

128
Q

What do you see on biopsy in Hirschprung’s disease?

A

Calretinin stain

129
Q

What is the side effect of Ceftriaxone?

A

Biliary sludge

130
Q

Ascites with a SAAG of <0.8 what do they have?

A

Malignancy

131
Q
  1. Wilson disease what is the defect?
A

Copper P-type

132
Q

Tacrolimus toxicity

A

Hyperglycemia

133
Q

PRSS1 inheritance

A

AD

134
Q

Nutrition in CKD

A

Decreased protein and low phos

135
Q

Toxicity of what would cause HA and tremors in pt on TPN

A

manganese

136
Q

What do you see in breastmilk microbiome?

A

Bifidobacteria

137
Q

MOA of hyocyamine?

A

Anticholinergic

138
Q

What does a Case Control study look at?

A

Odds ratio

139
Q

What is the most common cause for a distal esophagus stenosis?

A

Tracheobronchial remnant/rest

140
Q

Associated with APC gene

A

Gardner and Turcot

141
Q

SMAD4 association

A

Juvenile polyposis syndrome

Hereditary hemorrhagic telangiectasia

142
Q

NOD2 in CD predisposes you to what phenotype?

A

Stricturing

143
Q

What risk factors are good for UC

A

Smoking and appendectomy

144
Q

What medicine can you give for radiation colitis?

A

Mesalamine

145
Q

Why do short gut patients with connect colon salvage more energy than those with ileostomies?

A

SCFA

146
Q

A liver transplant patient is taking tacrolimus as his immunosuppressant. He develops gastroparesis. He is started on erythromycin and shortly thereafter he begins to get a headache, what is the likely reason?

A

Taco toxicity

147
Q

Patient with CGD has a liver abscess. What is the most likely organism?

A

Staph

148
Q

A patient is found to have elevated urine succinylacetone. What is the treatment?

A

NTBC (Nitisone)

Has tyrosinemia

149
Q

Little boy has high ammonia and elevated bicarbonate levels. What is the etiology?

A

OTC deficiency

150
Q

Organomegaly + adrenal calcifications

A

Wolman Syndrome

151
Q

Pregnant mom develops HELLP syndrome annd fatty liver. What do you think of?

A

LCHAD deficiency

152
Q

Mechanism of PRSS1

A

Increased Trypsin
AD
develop adenocarcinoma

153
Q

Mechanism of SPINK1?

A

Uninhibited activation of trypsin

154
Q

Patient has FTT, steatorrhea, mild anemia, low platelets, low neutrophils. What is diagnosis?

A

Shwachman Diamond

155
Q

What meds induce phase 3 MMC

A

Erythromycin

Octreotide

156
Q

Stool pH in carb malabsorption

A

ph<6 and significant perianal excoriation

157
Q

Patients with X-linked hyper-IgM syndrome are at high risk for what infection? Treatment?

A

Cryptosporidium infection of the biliary tract

Nitazoxanide

158
Q

Vit A toxicity

A

dry skin, headaches, hepatomegaly, and increased CSF pressures (pseudotumor cerebri)

159
Q

Vit A stoarge and defiency

A 
Ito cells (liver)
xerophthalmia (abnormal keratinization of conjunctiva secondary to poor lacrimal gland secretion), poor bone growth, non-specific skin problems, and decreased humoral and cell mediated immune function. Vitamin A deficiency can also lead to anemia, presumably by inhibiting the normal metabolism of iron. Supplementation can reverse many of these problems; however, advanced corneal scarring may be irreversible.
160
Q

kwashiorkor vs marasmus.

A

Kwashiorkor is characterized by muscle atrophy and increased body fat, secondary to poor protein intake in the setting of adequate energy intake. Marasums, on the other hand, is characterized by muscle wasting and depleted fat stores, secondary to inadequate intake of all nutrients.

Severe PEM of both types produces a number of signs and symptoms: irritability, decreased serum lipoproteins, increased infection risk, and anemia. However, kwashiorkor classically presents with severely low serum albumin concomitant with edema. Marasmus presents with low-normal serum albumin with wasting but no edema.

160
Q

kwashiorkor vs marasmus.

A

Kwashiorkor is characterized by muscle atrophy and increased body fat, secondary to poor protein intake in the setting of adequate energy intake. Marasums, on the other hand, is characterized by muscle wasting and depleted fat stores, secondary to inadequate intake of all nutrients.

Severe PEM of both types produces a number of signs and symptoms: irritability, decreased serum lipoproteins, increased infection risk, and anemia. However, kwashiorkor classically presents with severely low serum albumin concomitant with edema. Marasmus presents with low-normal serum albumin with wasting but no edema.

161
Q

Which of the following is NOT found in Wolman’s disease (cholesterol ester storage disease)
A. Orange coloured liver
B. Lipid laden macrophages in the portal triad
C. Blueish hue to some hepatocytes
D. Diffuse steatosis
E. Inflammation

A

C. Blueish hue to some hepatocytes

Wolman disease is caused by a defect in lysosomal acid lipase (LAL). As a result, lysozymes receive endocytosed lipoproteins properly, but they cannot hydrolyze the triglycerides and cholesterol esters. The triglycerides and cholesterol esters accumulate inside cells, leading to bowel wall thickening (accumulation in enterocytes and macrophages) and severe life-threatening diarrhea and malnutrition. In Wolman disease, the adrenal glands are also calcified.
The liver in Wolman disease is enlarged and appears yellow/orange and greasy in appearance (the orange comes more from the cholesterol esters than the triglycerides). There is extensive fibrosis, associated with lymphoid infiltration and accumulation of triglycerides/cholesterol esters in hepatocytes, Kupffer’s cells, and portal area macrophages. In iron storage disorders, rather than Wolman disease, hepatocytes stained for iron may have bluish-hue reflecting excess ferritin in the cytoplasm.

162
Q

A 6-year-old boy just arriving from Eastern Europe has had malodorous diarrhea since early infancy, even though he was breast-fed. He is small, has some bruises from bumping into furniture going to the bathroom at night, and has recently developed some difficulty walking. Physical examination shows that he is small and undernourished, with depleted subcutaneous fat. He has a protuberant abdomen and 1+ edema in his lower extremities. He has no deep tendon reflexes in his lower extremities. Which one of the following explains the finding on the small intestinal biopsy from this patient?
A. gluten enteropathy
B. congenital lactase deficiency
C. abetalipoproteinemia
D. glucose-galactose transport defect
E. chronic nonspecific diarrhea of childhood

A

C
This patient has evidence of fat malabsorption (wasting), including Vitamin K (bruising), Vitamin E (decreased deep tendon reflexes), and perhaps even Vitamin A (night blindness or retinitis pigmentosa). Abetalipoproteinemia (ABL) can cause such symptoms.

163
Q

Vitamins and minerals are incorporated into infant formulas in the United States to provide an essentially complete diet.
Which of the following minerals or trace minerals must be SUPPLEMENTED in ready-to-feed infant formulas to meet the recommended daily allowances?
A. Calcium
B. Fluoride
C. Iron
D. Magnesium
E. Selenium

A

Fluoride

164
Q

A 5-month-old boy with frequent vomiting is switched from human milk to formula. His symptoms immediately worsen, and he becomes highly irritable. Shortly afterward, he becomes comatose. Physical examination reveals a small, hypotonic child responsive only to pain. Laboratory studies reveal: increased anion gap; metabolic acidosis; serum ammonia concentration, 150 mg/dL; and serum glucose level, 85 mg/dL.
Which of the following classes of inborn errors of metabolism is MOST likely in this patient?
A. Disorder of fatty acid oxidation
B. Glycogen storage disease
C. Lysosomal disease
D. Organic acidemia
E. Urea cycle defect

A

Urea cycle defects should be considered in patients with an anion gap, high ammonia, and normal glucose. Urea cycle defects lead to high ammonia, because there is a defect in converting ammonia to the secreted product urea. High ammonia causes neurological deficits through mechanisms incompletely understood. High ammonia also causes an anion gap, possibly by impairing brain mitochondria, forcing anaerobic metabolism of sugar, and producing lactic acid as a by-product. This patient showed mild symptoms with human milk (i.e. frequent vomiting), because human milk has low protein levels (2.3 g/dL protein at birth and decreasing to 1.5-1.8 g/dL after 2-4 weeks). The symptoms increased with formula, because formula has more protein (approximately 2.1-2.2 g/dL) which led to an increased accumulation of ammonia.

165
Q

For patients with hypoglycemia and no ketones what disorder do you think of

A

, a disorder in fatty acid metabolism should be suspected. MCAD

166
Q

Which of the following is not part of the Currarino triad characterizing caudal regression syndrome which can present as infantile constipation?

a. dysplasic sacrum b. anal abnormalities c. tethered cord
d. pre-sacral mass

A

C

167
Q

A 6-week-old infant born at term has a hemoglobin level of 11 gm/dL and is diagnosed with physiologic anemia of the newborn. The MOST likely cause is:
A. inadequate iron stores in the bone marrow B. inadequate serum levels of vitamin E
C. increased excretion of iron in the stool
D. low levels of serum erythropoietin
E. persistent fetal hemoglobin

A

D. Physiologic anemia of the newborn occurs when fetal hemoglobin normally declines at 6 to 8 weeks. Because fetal hemoglobin has a higher affinity for oxygen, serum erythropoietin levels are initially low. Erythropoietin levels eventually rise again with time, correcting the anemia. Some have investigated whether Vitamin E mitigate the normal hemoglobin nadir, with equivocal results.

168
Q 
A 3-year-old boy underwent a hepatoportoenterostomy (Kasai procedure) for extrahepatic biliary atresia at 6 weeks of age. He has been receiving cholestyramine to treat severe pruritus for the past 2 months. Of the following, the nutrient MOST likely to be malabsorbed because of this patients underlying liver disease and its treatment is:
A. carbohydrate
B. fat
C. protein
D. trace elements
E. water-soluble vitamins
A

B. This patient will have low luminal bile acids for two reasons: 1) poor bile acid secretion into the gut, secondary to biliary atresia; and 2) poor bile acid activity in the gut, secondary to binding with cholestyramine. Bile acids, pancreatic lipase, and pancreatic colipase work together to digest fats efficiently. Without bile acids, fat malabsorption will occur. Neither BA nor cholestyramine impairs duodenal or pancreatic function, so protein and carbohydrate absorption should be intact.

169
Q

Oral ulcers, genital ulcers, uveitis, aceiform facial rash

A

Behcet

HLA B51

170
Q

Linaclotide

A

Linzess

Guanylate cyclase agonist

171
Q

Low fecal fat (pH<6) should make you think of what diagnosis

A

Carb malabsorption

172
Q

Reducing substance should make you think of what diagnosis

A

Sugar malabsorption

173
Q

GIST (originate from, express what in adults vs kids, increased incidence of what)

A

interstitial cells of canal
-KIT in adults
-12% in kids succinate dehydrogenase (SDH) enzyme mutation
- increased incidence of NF1

174
Q

Carney Strata’s syndrome

A

GIST and paragangliomas in kids with SDH mutation in absence of KIT or PDGFRA mutations

175
Q

Carney triad

A

GIST, paraganglioma, and pulmonary chondroma

176
Q

Lipomas most commonly found where in the GI tract

A

Ileum and Duodenum
-Arise from submucosal or serial adipose tissue

177
Q

Carcinoid tumors most commonly found where in the GI tract

A

Appendix
-Then stomach, SI, rectum

178
Q

Carcinoid crisis

A

Secretion of serotonin, histamine, and catecholamines
-Flushing diarrhea and pain, tachycardia, BP variation, and heart failure
- Often in foregut tumors or if large
-Dx: 5-hydroxyindoleacetic acid
-tx: resect

179
Q

Tx of acromegaly with octreotide can predispose to what?

A

gallstone formation (due to suppression of CCK release and GB emptying)

180
Q

Hyperparathyroidism can present as what GI disorder

A

-Gastroparesis bc increase Ca leads to reduction of NM excitability
-Peptic acid ds bc of gastric acid hyper secretion
-Constipation
-Acute pancreatitis

181
Q

AI hepatitis type I

A

Ana +/- SMA
OLDER kids
Typically present with cirrhosis
Can wean meds

182
Q

AI hepatitis type 2

A

LKM/LC1
Young kids
Acute presentation
Lifelong suppression

183
Q

Syndrome assoc with AIH

A

AI polyendocrinopathy candiasis ectodermal dystrophy syndrome (APCED)
Immunodysregulation, poly endocrinopathy enteropathy X-linked syndrome (IPEX)
CVID
hyper IgM syndrome

184
Q

What antibodies, signifies worse, autoimmune hepatitis disease

A

Soluble liver, antigen (SLA)

185
Q

A1AT deficiency path

A

PAS positive diastase resistant globules in peripheral region
Globules have clear halo surrounding zone 1

186
Q

PFIC 1 gene

A

Atp8B1 FIC1

187
Q

PFIC 1 location

A

Apical membranes of hepatocyte, colon, intestine, pancreas

188
Q

PFIC 1 histology

A

Bland cholestasis with course granular canalicular bile on electron microscopy

189
Q

Labs PFIC 1

A

Normal or low GGT, increase serum bile acid, decrease biliary bile acid

190
Q

Labs PFIC 2

A

Normal or low GGT, increase serum bile acid, decrease biliary bile acid

191
Q

Characteristics PFIC 1

A

Progressive cholestasis, severe pruritis , diarrhea, pancreatic involvement, growth, failure, hearing loss

192
Q

PFIC 2 gene

A

ABCB1/ BSEP

193
Q

PFIC 2 gene location

A

Cannalicular membranes of hepatocytes

194
Q

PFIC 2 histology

A

Neonatal giant cell hepatitis and amorphous canalicular bile on EM

195
Q

PFIC 2 characteristics

A

Growth failure, pruritus, severe fat soluble deficiency, rapidly progressing, cholestatic giant cell hepatitis

196
Q

Risk of portal hypertension in PFIC

A

2>1

197
Q

Risk of hepatocellular, carcinoma, or cholangiocarcinoma in PFIC

A

PFIC 2

198
Q

PFIC 3 gene

A

ANCB4/MDR3

199
Q

PFIC 3 location

A

Canalicular membrane of hepatocyte

200
Q

PFIC 3 histology

A

Bile duct proliferation and periportal bile on EM

201
Q

PFIC 3 labs

A

Increase GGT, normal bile acid concentration

202
Q

PFIC 3 characteristics

A

Later onset of cholestasis, minimal itching, portal HTN, gallstones

203
Q

PFIC 3 tx

A

Urso and liver transplant

204
Q

PFIC 1 & 2 tx

A

Supportive, antipruritic, biliary diversion, liver transplant

205
Q

New PFIC GENE

A

TJP2

206
Q

New PFIC Histology

A

Tight junctions between hepatocytes and biliary, canaliculi, elongated and liking densest part of Zona occludens

207
Q

Findings in all PFIC

A

Absence of Xanthomas
Near normal serum cholesterol
Severe fat soluble vitamin deficiency growth failure
Progression to cirrhosis

208
Q

Benign recurrent, intrahepatic, cholestasis gene

A

AR
ATP8B1
ABCB1/BSEP

209
Q

Benign recurrent, intrahepatic, cholestasis histology

A

Centrilobular cholestasis and canalicular cholestasis

210
Q

Benign recurrent, intrahepatic, cholestasis labs

A

Increased GGT and serum bile acid

211
Q

Johansson Blizzard triad

A

EPI
Absence of permanent teeth,
Nasal wing aplasia or hypoplasia

AR

212
Q

Johansson Blizzard assoc with what other manifestations

A

Congenital deafness
Scalp defects
Cognitive impairment
Short stature
Hypothyroidism
Microcephalic
iUGr
Imperforate anus
Congenital heart defects
Genital malformations
Renal abnormalities
Diabetes
gH deficiency

213
Q

Scwachman-Diamond syndrome triad

A

EPI
Bone marrow dysfunction
Skeletal abnormalities

AR

214
Q

Johansson blizzard pathogenesis

A

Chromosome 15q
UBR1 mutation

215
Q

Shwachman diamond pathogenesis

A

Chromosome 7
SBDS gene

216
Q

Pearson marrow pancreas syndrome

A

Rare mito disorder
EPI
Bone marrow vacuolization of cells
Siderblastic anemia
Lactic acidosis
Early death

217
Q

Jeune syndrome

A

Rare AR disorder
EPI
Respiratory difficulties and asphyxiating thoracic dystrophy

218
Q

Comparing CF to SDS sweat Cl

A

Sds: normal
Cf: high

219
Q

Comparing CF to SDS trypsinogen

A

Sds: low in infants; normal over 3 yoa
Cf: High in newborns, low after 1 yoa

220
Q

Comparing CF to SDS histology

A

Sds: normal ductwork elements. Fatty replacement of acunar tissue
Cf: duct obstruction and fibrosis

221
Q

Comparing CF to SDS pancreatic enzyme output

A

Sds: increase output over time with normal fat absorption in 50% by 4 yoa. Output is not dependent on genotype
Cf: output dependent on genotype

222
Q

Primary stimulant of GI motility

A

Ach

223
Q

Primary inhibitor of GI motility

A

Norepi

224
Q

Allgrove syndrome

A

Triple A
Achalasia, Addison, alacrima

225
Q

Delayed gastric emptying definition

A

> 60% remaining at 2 hours or >10% at 4 hours

226
Q

Type 1 achalasia

A

Minimal pressurization
100% failed peristalsis

227
Q

Type 2 achalasia

A

Failed peristalsis with panesophageal pressurization with >20% of swallows

228
Q

Type 3 achalasia

A

Failed peristalsis
Preserved fragments of nonpropagating distal peristalsis or spastic contractions

229
Q

Cm unlikely to pass pylorus

A

2.5 cm

230
Q

Cm unlikely to pass duodenal sweep

A

6 cm

231
Q

If no progression of object is —days recommend removal

A

3 days

232
Q

Remove object if still retained in —weeks

A

2-4 weeks

233
Q

Hepatitis in adolescent females, indolent finding of cirrhosis

A

AI hepatitis type 1
Smooth muscle Ab

234
Q

Hepatitis in young kids with liver failure

A

Liver kidney microsomal
AIH type 2

235
Q

Anti mitochondrial antibody

A

Primary biliary cirrhosis

236
Q

Ana positive

A

AIH 1
Can also see SMA positive

237
Q

IGG can be elevated in AIH? T/F

A

True

238
Q

What Abx can unmask AIH type 1

A

Minocycline

239
Q

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy syndrome is associated with what othe r AI disease?

A

AIH type 2

240
Q

T/F therapy is typically lifelong in AIH type 2

A

True

241
Q

Methotrexate SE

A

Hepatotoxicity
Nausea and vomiting (all reduced with folate)

242
Q

Defect seen in infants of young mothers, nicotine, cocaine and aspirin/ibuprofen exposure

A

Gastroschisis (right of umbilicus)
Not associated with syndromes
Associated with malrotation

243
Q

Defect seen in advanced maternal age and twin births

A

Omphalecele (midline defect)
Associated with syndrome (beckwicth weideman, CHARGE, and pentalogy of Cantrell) and malrotation

244
Q

If IGA deficiency, how to screen for celiac disease

A

Deamidated gliadin peptide IgG

245
Q

Diarrhea that leads to alkalosis

A

Congenital chloride diarrhea
SLC26A3

246
Q

Rx of congenital chloride diarrhea

A

Enteral Kcl NaCl supplement, PPI, chilestyramine

247
Q

Lymphocytic colitis assoc with

A

Celiac disease and PPI

248
Q

Apostolic cells hallmark in

A

Acute GVHD
21-100 days after BMT

249
Q

Zollinger Ellison syndrome

A

Men 1
Elevated gastrin
Positive secretin test
Low gastric pH
Multiple ulcers on egd

250
Q

Alkali ingestion

A

Liquefactive necrosis
Transmural
Esophageal>gastric

251
Q

ACidic ingestion

A

Coagulative necrosis
More gastric injury

252
Q

True sucking occurs at how many weeks

A

18-24

253
Q

At how many weeks can you sustain nutrition orally

A

34-37 weeks

254
Q

Triple A

A

Allgrove
Alacrima
Achalasia
ACTH insensitivity
Gene 12q13
Hypoglycemia within 5 years of life

255
Q

Rozycki syndrome

A

Achalasia
AR deafness
Short stature
Vitiligo
Muscle wasting
Assc with chagas, downs, sarcoidosis, HD, pyloric stenosis, paraneoplastic syndrome, Hodgkins

256
Q

Foregut duplications associations

A

Lung sequestration
Vertebral anomalies
Intra abdominal intestinal cysts

257
Q

TEF gene with tracheoesophageal ridge

A

Sonic hedgehog

258
Q

EA and TEF associations

A

VACTERL
CHARGE
SCHISIS syndrome
Pyloric stenosis

259
Q

Hirschprungs disease assc with

A

RET, EDNRB,SOX gene
Downs, wandeeburg, ACTG2, MEN2B, MEN2A

260
Q

Type I AIH

A

Anti smooth Ab

261
Q

Type 2 AIH

A

Anti liver kidney

262
Q

Type I AIH

A

SMA ANA
HLA DR3/4
Older onset
Acute hepatitis, cirrhosis

263
Q

Type 2 AIH

A

LKM, LC1 (liver cytosol)
HLA DR7/3
Younger onset
Acute hepatitis, liver failure

264
Q

Type 1 AIH assc

A

UC
PSC
ITP

265
Q

AIH histology

A

Interface hepatitis
Lymphoasmacytic infiltrate
Rosetting of HC
Periportal necrosis

266
Q

ANCA in AIH

A

Poor prognosis

267
Q

Picornavirus

A

Hep a
Virus secreted in bile, transmitted to stool

268
Q

Extra intestinal features of Hep B

A

Membranous GN
Serum sickness(skin rash, polyarteritis)
Cryoglobinemia
Aplastic anemia

269
Q

Zone 3

A

Drug metabolism
Ketogenesis
Bile acid synthesis
Glycolysis

270
Q

PKU phenylketonuria

A

Error in phenylalanine hydroxylase
Death, MR and growth failure

271
Q

Maple syrup urine

A

Error in ketoacid dehydrogenase
Hypoglycemia, death, MR, and increased urinary and plasma leucine

272
Q

Phenylalanine deficiency

A

In infants being treated for pku
FTT, neurological signs and eczema

273
Q

Isoleucine deficiency

A

Infants receiving branch chain AA free formula for MSUD
FTT and acrodermatitis Enteropathica

274
Q

What anticonvulsants will increase GGT

A

Phenobarbital and phenytoin

275
Q

Teglutide side effect

A

GLP 2
Bowel obstruction, colonic polyps and fluid overload

276
Q

SMAD4 Assc with what 2 conditions

A

JPS and hereditary hemorrhagic telangiectasia

Peds GI (8 decks)

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