Gastroenterology Flashcards

Question

Hypercalcemia

Answer 1

Hypercalcaemia is defined as an adjusted calcium level of >2.60mmol/L. Patients with mild hypercalcaemia tend to be asymptomatic, but when levels exceed 3mmol/L, symptoms include muscle weakness, cardiac arrhythmias (short QT interval), constipation, kidney stones and depression. Causes of hypercalcaemia include: Hyperparathyroidism Malignant tumour – Some tumours secrete parathyroid-hormone related peptide (PTHrP). This mimics PTH, leading to hypercalcaemia. Vitamin D intoxication – excess vitamin D causing increased intestinal absorption of calcium. Thiazide diuretics – increase renal reabsorption of calcium causing excess calcium in blood.

Answer 2

mutation in bile salt transporter- accumulation of bile salts within hepatocytes (intrahepatic chlestasis) type 1- presents early with hepatitis/cholestasis (ATP8B1 mutation) type 2- presents later (ABCB11 mutation) The onset of the disease is usually before age 2. Of the three entities, PFIC-1 usually presents earliest and is a multisystem disease. Patients usually present in early childhood with cholestasis, jaundice, and failure to thrive. Intense pruritus is characteristic. Patients may have fat malabsorption, leading to fat soluble vitamin deficiency PFIC1: + watery diarrhoea Ix: elevated serum bile salts, elevated bili and ALP, GGT normal in type 1 and 2, high in type 3. Liver biopsy= electron microscopy showing coarse granular bile and light microscopy showing bland cholestasis (type 1) or giant cell hepatitis (type 2) . Genetic testing is the only reliable way to distinguish between PFIC 1 and PFIC 2. Type 2: -higher risk of HCC in very young age than other conditions - high incidence gallstones no real treatment eventually needs transplant

Answer 3

microvillous inclusion disease

Answer 4

corrolates with active replication and infectivity HBe appears first, before HBs Ag

Answer 5

Replicant phase: - HBeAg + - high DNA viral load - high transaminases Inactive carrier state: - HbeAg neg (implies low viral load) - Normal liver enzymes Resolution: HbsAg neg Anti HbsAb positive (immunity)

Answer 6

immunotolorent - normal liver enzymes - high viral load - HBeAg + due to replication clearance - abnorma liver enzymes HBeAg neg chronic HbsAg+ phase -low viral replication

Answer 7

Entacavir - nucleoside reverse transcriptase inhibitor Tenofovir -nucleoside reverse transcriptase inhibitor

Answer 8

blood vertical

Answer 9

sofosbuvir + ledipasvir inhibitor of RNA polymerase - chain terminator curative

Answer 10

AR ATP7B gene mutation: impaired function of the intracellular copper transporter. inability biliary copper excretion --> accumulation of copper in liver + brain + cornea --> psychiatric symptoms, liver cirrhosis and failure can present with neuropsychiatric disorder, chronic liver disease, or acute liver failure KF rings have no impact on vision- diagnostic only Rx: penicillamine, treatine if penicillamine not tolerated Zinc- competes for copper absorption If asymptomatic sibling without liver dieases- still start zinc to prevent liver damage

Answer 11

ALP/AST usually mildly to moderately elevated in presymtomatic stage hemolytic anemia (coombs positive) elevated serum copper low free ceruloplasmin (impaired hepatic incorporation of copper into ceruloplasmin, leading to a reduction in total circulating ceruloplasmin ) high urinary copper excretion , especially with penicillamine challenge liver biopsy- high copper dry weight eye review

Answer 12

Type 1- SMA positive, ANA positive Type 2- LKN positive - type 2 usually more severe, more treatment failure clue- deranged LFTs including elevated conjugated bili (but may be normal), high AST/ALP, GGT but HIGH PROTEIN Confirmed by liver biopsy Rx: pred 2nd line- azathioprine/6MP 3rd line- mycophenolate

Answer 13

inflammation (cholangitis) and scarring of bile ducts (sclerosis) leads to progressive liver disease and cholestasis (jaundice, itch, abdo pain) complications: ascending cholangitis (fever, jaundice, RUQ pain) portal HTN risk colangiocarcinoma Rx: stenting strictures liver transplant if asociated with UC- colectomy may improve PSC

Answer 14

simple steatosis (fat in liver) steatohepatitis (fat causes inflammation) cirrhosis

Answer 15

PRSS1 and SPINK1 gene mutations Cystic fibrosis Adverse reaction from 6MP/azathioprine, valproate, ACEI, diuretics, asparaginase gallstones (especialy bile pigment stones from hemolytic disease) choledocal cyst trauma hyperlipidemia Hypercalcemia viral rapid refeeding after starvation antitrypsin deficiency

Answer 16

associated splenomegaly recurrent vomiting and FTT hypoglycemia unwell

Answer 17

> 12 mmHg usuaully leads to splenomegaly due to congestion

Answer 18

ABC IV PPI (improves platelet function) IV antibiotics (sepsis precipitates variceal bleeding, bacterial infection present in up to 65% bleeders, may be SBP) IV octreotide Endscopy to band site of bleeding

Answer 19

prevents and treats encephalopathy reduces intestinal production and absoprtion of ammonia

Answer 20

IRON and folic acid

Answer 21

folic acid carbs water soluable vitamins

Answer 22

B12 bile salts fatty acids fat soluable vitamins

Answer 23

dupdenum + proximl jejunum

Answer 24

upper to mid small intestine

Answer 25

transporter on luminal side of enterocyte absorption of glucose/galactose alongside sodium = cotransporter

Answer 26

GLUT5 transporter

Answer 27

transporter on blood side of enterocyte exit of sugars into the circulation

Answer 28

B3 also B2, B12, iron

Answer 29

pH <6 suggests osmotic diarrhoea/carbohydrate malabsorption Reducing substances >0.5 is abnormal - carbohydrate maabsorption Stool electrolytes- Na ~30, K ~75 High osmolar gap suggests osmotic diarrhoea Low osmolar gap suggests secretory diarrhoea

Answer 30

caused by non absorbed nutrients in the lumen dragging water out into gut stops with fasting high osmolar gap >100 (290-2xNa+K) ie low concentration of sodium and potassium in stool reducing substances present pH <5 eg osmotic laxatives Mucosal injury eg post rotavirus, IBD, coeliac disaccharide deficiency monosacharide transport defect transport overload eg too much sugar or fruit00

Answer 31

drags water out into the gut with sodium (reduced absorbtion or increased secretion of electrolytes into gut lumen) No effect to fasting higher volume poo low osmolar gap <50 as high stool electrolytes, Na >90 absent reducing substances pH >6 eg. congenital transport and mucosal defects eg congenital chloride diarrhoea, microvillus inclsion, tufting enteropathy bacterial toxins - cholera, E.coli, salmonella, shigella, c.diff, yesrsinia Parasites: cryptosporidium Hormone secreting tumor bile acid malabsorption short gut rapid transport

Answer 32

Fat globules = intraluminal problem e.g. failure of enzyme process or bile to suspend fats = maldigestion Fatty acid crystals = mucosal/brush border problem (fatty acid not absorbed) = malabsorption e.g. celiac disease, infection (Giardia), cows milk enteopathy intestinal lymphangiectasia- broken down but not absorbed into lymphatics

Answer 33

chronic protein losing enteropathy characterised by lymphatic vessel dilatation, chronic diarrhoea and loss of serum albumin/globulin  oedema and ascites. Reduced lymph flow leads to malabsorbtion. Most commonly due to congenital malformation of the lymphatics low Immunoglobulins and albumin A1AT in stool

Answer 34

sucrose non reducing all monosacharides, lactose, maltose are reducing

Answer 35

stool electrolytes, pH, reducing sugars

Answer 36

Laxative use Eg senna

Answer 37

Congenital chloride diarrhoea (chloride-losing diarrhoea) — rare recessive inherited disorder caused by mutations in a chromosome 7 gene. The chloride/bicarbonate transport mechanism in the distal ileum and colon is defective, causing severe watery diarrhoea, beginning at birth. Maternal polyhydramnios is common. Watery diarrhea leads to dehydration and a severe electrolyte disturbance characterized by hypokalemia, hypochloremia, and alkalosis, a most unusual pattern for an infant with chronic diarrhea. Other aspects of intestinal absorption are normal. Stools contain chloride in excess of the sum of sodium and potassium (125–150 mEq/L). Treatment does not alter diarrhoea but diminishes complications. All losses of electrolytes and water are at first replaced intravenously; oral solutions are usually tolerated after one month. If the diagnosis is made early in the neonatal period and adequate therapy started immediately, the affected infant will show perfect growth and development. B: Fructose malabsorption, formerly named "dietary fructose intolerance," is a digestive disorder in which absorption of fructose is impaired by deficient fructose carriers in the small intestine's enterocytes. This results in an increased concentration of fructose in the entire intestine. Fructose malabsorption is found in up to 40% of the population of Western countries. C: Glucose-galactose malabsorption. More than 30 different mutations of the sodium/glucose co-transporter gene (SGLT1) are identified. These mutations cause a rare autosomal recessive disorder of intestinal glucose and galactose/Na+ co-transport system that leads to osmotic diarrhoea. Presents with severe life-threatening diarrhoea and dehydration during the neonatal period. Since most dietary sugars are polysaccharides or disaccharides with glucose or galactose moieties, diarrhoea follows the ingestion of glucose, breast milk, or conventional formulas. Patients are symptomatic as long as their diet includes lactose or its hydrolysis products, glucose and galactose. The diagnosis is suspected if the diarrhoea resolves promptly when these sugars are eliminated, and confirmed by a positive glucose breath hydrogen test and normal intestinal biopsy. Treatment is with a fructose-based formula, and lifelong dietary restriction of the causative sugars. E: Sucrase-isomaltase deficiency is a rare autosomal recessive disorder with a complete absence of sucrase and reduced maltase digestive activity. Symptoms of sucrase-isomaltase deficiency usually begin when the infant is exposed to sucrose or a glucose polymer diet. This can occur with ingestion of non–lactose based infant formula or on the introduction of pureed food, especially fruits and sweets. Diarrhea, abdominal pain, and poor growth are observed. Diagnosis of sucrase-isomaltase malabsorption requires acid hydrolysis of stool for reducing substances because sucrase is a nonreducing sugar. Alternatively, diagnosis can be achieved with hydrogen breath test or enzyme assay of small bowel biopsy. The mainstay of treatment is lifelong dietary restriction of sucrose-containing foods.

Answer 38

D: STK11 mutation causes Peutz-Jegher, which manifests as GI hamartomatous polyposis and pigmented macules on the lips/gums.

Answer 39

adult- 6m 1 yo 3.8m neonate 2.5 m prem 28 week 1.5m large intestine length in adult 1.5m

Answer 40

produce HCl and intrinsic factor histamine produced by stomach mucosa, stimulates parietal cells to release HCl

Answer 41

secrete pepsinogen *pepsinogen is converted to pepsin in presence of HCll

Answer 42

neuroendocrine cells secrete gastrin--> Increases secretion by gastric glands; promotes gastric emptying and intestinal contraction an relaxes ileocecal valve

Answer 43

CCK is synthesized and released by enteroendocrine cells in the mucosal lining of the small intestine (mostly in the duodenum and jejunum), called I cells, neurons of the enteric nervous system, and neurons in the brain.[5] It is released rapidly into the circulation in response to a meal. The greatest stimulator of CCK release is the presence of fatty acids and/or certain in the amino acids in the chyme entering the duodenum Actions: Inhibits gastric emptying Stimulates contraction of gallbladder Stimulates secretion of pancreatic enzymes Satiety

Answer 44

- Primarily a food allergy - Allergen presented to T cells in oesophagus -> inflammatory response by TH2 cells and IL 13  eosinophils and mast cells secretes proteases, cytokines and histamine  tissue remodelling and inflammation  fibrosis (strictures in severe cases) - In older children, mainly presents as food impaction, dysphagia, odynophagia, reflux - Younger children often present as reflux, vomiting, gagging, difficulty feeding - Treatment: PPI, diet (remove allergen), steroids (topical- fluticasone, budesonide), biologics - 30% of kids respond to PPI alone

Answer 45

presence of gastrinoma, a neuroendocrine tumor that secretes a hormone called gastrin.[2] Too much gastrin in the blood (hypergastrinemia) results in the overproduction of gastric acid by parietal cells in the stomach. ---> peptic ulcers and chronic diarrhoea 25% occur as part of MEN1

Answer 46

Mutations of the sodium/glucose co-transporter gene (SGLT1)---> osmotic diarrhoea. Presents with severe life-threatening diarrhoea and dehydration during the neonatal period. Diarrhoea follows the ingestion of glucose, breast milk, or conventional formulas. Patients are symptomatic as long as their diet includes lactose or its hydrolysis products, glucose and galactose. The diagnosis is suspected if the diarrhoea resolves promptly when these sugars are eliminated, and confirmed by a positive glucose breath hydrogen test and normal intestinal biopsy. Treatment is with a fructose-based formula, and lifelong dietary restriction of the causative sugars.

Answer 47

Deficiency of fructose-1,6-bisphosphate aldolase is a severe condition of infants that appears with the ingestion of fructose-containing food (therefore start around 6 months of age) and is caused by deficiency of fructose aldolase B activity in the liver, kidney, and intestine. Children present with hypoglycemia and vomiting following fructose ingestion Additional clinical manifestations include hepatomegaly, lactic acidosis, and failure to thrive. If exposure to fructose continues, the affected individual may develop liver failure and renal tubular dysfunction. Undiagnosed children may develop a self-protective aversion to fructose and sucrose-containing foods

Answer 48

stool pH (<6) and reducing substances >0.5

Answer 49

Omeprazole reversibly reduces gastric acid secretion by specifically inhibiting the gastric enzyme H+, K+-ATPase, the proton pump, in the acid environment of the intracellular canaliculi within the parietal cell. This effect of omeprazole on the final step of the gastric acid formation process is dose dependent and effectively inhibits both basal acid secretion and stimulated acid secretion, irrespective of the stimulus to acid production.

Answer 50

elastase chymotrypsin trypsin

Answer 51

1. weight gain caused by fluid retention 2. tender hepatomegaly 3. hyperbilirubinaemia

Answer 52

§ Hypophosphatemia § Hypokalemia § Hypomagnesemia § Vitamin (e.g. thiamine) and trace mineral deficiencies § Volume overload § Oedema Hypophosphatemia is the hallmark of the syndrome and predominant cause of the refeeding syndrome. Serum PO4 < 0.5mmol/L results in weakness, rhabdomyolysis, neutrophil dysfunction, cardiorespiratory failure, arrhythmias, seizures, reduced level of consciousness. It results from a sudden shift from fat to CHO metabolism: sudden increase in insulin levels results in increased cellular uptake of phosphate.

Answer 53

The chloride/bicarbonate transport mechanism in the distal ileum and colon is defective, causing severe watery diarrhoea, beginning at birth. Maternal polyhydramnios is common. Watery diarrhea leads to dehydration and a severe electrolyte disturbance characterized by hypokalemia, hypochloremia, and metabolic ALKALOSIS (unusual pattern for diarrhoea) Stools contain very high chloride in excess of the sum of sodium and potassium (125–150 mEq/L). Treatment does not alter diarrhoea but diminishes complications. All losses of electrolytes and water are at first replaced intravenously; oral solutions are usually tolerated after one month. If the diagnosis is made early in the neonatal period and adequate therapy started immediately, the affected infant will show perfect growth and development.

Answer 54

Rare autosomal recessive disorder with a complete absence of sucrase and reduced maltase digestive activity (cant break down sucrose or maltose to glucose). Symptoms usually begin when the infant is exposed to sucrose or a glucose polymer diet. eg. introduction of pureed food, especially fruits and sweets. Diarrhea, abdominal pain, and poor growth are observed. Diagnosis of sucrase-isomaltase malabsorption requires acid hydrolysis of stool for reducing substances because sucrase is a nonreducing sugar. Alternatively, diagnosis can be achieved with hydrogen breath test or enzyme assay of small bowel biopsy. The mainstay of treatment is lifelong dietary restriction of sucrose-containing foods.

Answer 55

It's the commonest inherited cause of hyperbilirubinaemia, is autosomal recessive, and it's benign. It presents as intermittent jaundice with no haemolysis or liver disease. The episodes may be precipitated by fasting, dehydration, menstrual periods, stress e.g. Intercurrent illness, vigorous exercise. Patients may have vague abdo discomfort and fatigue but the episodes resolve spontaneously It is caused by underactivity of conjugating enzyme system bilirubin-uridine diphosphate glucuronyl transferase (bilirubin-UGT) LFTs are normal except for an unconjugated hyperbilirubinaemia - intermittent unconjugated hyperbilirubinaemia and a normal full blood count, reticulocyte count and film, normal LFTs, and no other disease process.

Answer 56

Non absorbable solutes in lumen dragging water into gut due to: § Glucose-galactose deficiency § Disaccharidase deficiencies (e.g. lactose intolorance) § Excess intake: carbonated fluids, sorbitol, lactulose, MgOH lactulose post rotavirus IBD Coeliac transport overload eg excess sugar or fruit Diarrhoea stops with fasting, acidic pH <6, Na <70, high osmotic gap, positve reducing substances

Answer 57

enzyme induction by alcohol or aromatic medications (phenobarbitone, phenytoin) in the absence of liver disease.

Answer 58

A remnant of the embryonic yolk-sac’s connection to the gut (vitelline or omphalomesenteric duct), produced by failure of involution during gestation. Most common congenital gastrointestinal anomaly, occurring in 2-3% of infants, appears as a 3-6 cm outpouching of the ileum. The rule of twos best describes Meckel's diverticulum. It occurs in 2% of the population with a male-to-female ratio of 2:1, is found within two feet of the ileocecal valve, and is two inches long. Usually asymptomatic, but if symptoms occur they usually arise in the first 1-2 years of life, (can occur anywhere in the first decade). Most symptomatic diverticula are lined by ectopic mucosa, including an acid-secreting mucosa that causes painless rectal bleeding and ulceration of the adjacent mucosa - brick coloured or currant jelly stools.

Answer 59

It progresses up from the lacteals to the cisterna chyli and into the thoracic duct where it joins the junction of the internal jugular and subclavian veins, and chlye flows into the venous system. high protein and electroytes similar to serum low cholesterol high triglycrides heaps of lymphocytes NO MCT- as these are absorbed directly into the portal system

Answer 60

Approximately 10% of hepatoblastomas secrete ectopic b-hCG. hCG, through its LH-like action, causes Leydig cell stimulation in the testes. In turn, testosterone levels reach those of a normal adult, and secondary sexual characteristics develop together with premature skeletal maturity. The testes usually do not significantly enlarge – as Leydig cells only constitute about 25% of testicular volume; Sertoli cell hyperplasia or spermatogenesis is dependent on FSH. Therefore boys with precocious puberty secondary to hCG production by tumours typically have only mildly enlarged testes, discordant with their degree of pubertal development. Approximately 4% of boys with precocious puberty have hCG-producing tumours.

Answer 61

neural tube defects T21 T18 Tyrosinemia Ataxia telangiectasia Liver cirrhosis Hepatoblastoma HCC Germ cell tumor

Answer 62

AR ATP7B mutation Mainly expressed in hepatocytes Critical for biliary copper excretion and for copper incorporation into ceruloplasmin Mutation results in reduced biliary copper excretion and diffuse accumulation of copper in cytosol of hepatocytes Hepatocytes become overloaded and copper is redistributed to other tissues esp brain and kidneys causing toxicity Asymptomatic hepatomegaly (+/- splenomegaly), steatosis, coombs negative hemolytic anemia, hepatitis, acute hepatic failure, cirrhosis, portal HTN, ascites, variceal bleeding, coagulation defects Often misdiagnosed as steatosis or autoimmune hepatitis initially --> then fibrosisis and cirrhosis develop later Neurologic/psychiatric symptoms- tremor, dysarthria, parkinsonism, deterioration in school performance, depression, psychosis, personality changes Fanconi syndrome The younger the patient the more likely hepatic involvement will be the predominant manifestation Ix: consider in kids with unexplained acute or chronic liver disease, unexplained neurological symptoms, acute hemolysis, or bone disease LOW CERULOPLASMIN (due to failure of incorporation of copper into ceruloplasmin) and elevated free copper level; increased urinary copper If equivocal- 24 hour copper excretion with penacillamine challenge Kayser Fleisher rings Liver biopsy- hepatic copper content elevated Low ALP **ceruoplasmin may be elevated in acute inflammation or low in celiac disease or autoimmune hepatitis** Rx: copper dietary restriction, copper chellation (penacillamine) or trientine, zinc (reduced copper intestinal absorption)

Answer 63

- Can be asymptomatic or present in liver failure - Elevated transaminases - Negative viral scren - Elevated IgG - ANA, anti - SMA (type 1), anti LKN (type 2) Commonly associated with other autoimmune conditions

Answer 64

GLP-2 analogue mimic glucagon like peptide 2

Answer 65

inhibits bile acid transport in the distal ilium improves itch in Alagille syndrome

Answer 66

APC gene mutation (tumor suppressor gene) Onset of polyps ~16 years but can be much younger 100% develop malignancy - need to screen Average age of dx of colorectal cancer ~40 years Associated with hepatoblastoma, other cancers, and cortical dysplasia (seizures etc)

Answer 67

AD (positive family history)- but high rate of spontaenous mutations Germline mutation Mucocutaenous hyperpigmentation and extensive GI hamartomatous polyposis (mostly small intestine) Present with bleeding and abdo cramping, intussusception

Answer 68

Loose watery diarrhoea Flatulence Abdominal distension Abdominal pain Some children asymptomatic unless the malabsorbed carbohydrate is consumed in large amounts Disaccharides, which are present on the brush border membrane of small bowel, can be deficient due to a genetic defect or secondary damage to bowel epithelium eg infection or inflammation Unabsorbed carbs enter the large bowl and are fermented by intestinal bacteria, producing hydrogen and methane- cause discomfort and osmotic diarrhea ( acidic pH and presence of reducing or non reducing sugars in stool) Hydrogen gas can be detected in the breath as a sign of fermentation of unabsorbed carbohydrates

Answer 69

- Reduced abundance of GLUT-5 transporter on the surface of the intestinal brush border membrane which occurs in 5% of the population - Can present with IBD type symptoms - Diagnosis with H2 breath test Different to fructose intolerance

Answer 70

aldose B enzyme deficiency - results in fructose 1-phosphate accumulation in the liver. Consequently, gluconeogenesis and glycogenolysis are blocked, resulting in inhibition of protein synthesis - Asymptomatic until fructose or sucrose (sucrose is broken down to fructose) is ingested when solids commenced - Different patient can tolerate different amounts depending on degree of deficiency - Early clinical manifestations are similar to galactosemia- lactic acidosis, jaundice, hepatomegaly, vomiting, lethargy, seizures - Acute fructose ingestion- hypoglycemia, vomiting - Chronic ingestion: kidney failure and liver failure --> death

Answer 71

- Deficiency impairs formation of glucose (gluconeogenesis) from precursors - Hypoglycemia occurs when glycogen reserves are limited or exhausted - Presentation similar to GSDI - Severe ketotic hypoglycaemia + lactic acidosis - Hyperuricemia - Hypertriglyceridemia - Mild-mod hepatomegaly - FTT - Presentation in neonatal period or early infancy, often with metabolic crisis with fasting/illness - Ix: enzyme deficiency in liver or intestinal biopsy Rx: same as GSD1

Answer 72

- Absence of sucrase and reduced maltase - Symptoms occur with introduction of non lactose based milk or introduction of pureed food - Ix: elevated stool reducing substances, hydrogen breath test, or direct enzyme assay of small bowel biopsy Rx: avoidance of sucrose containing foods

Answer 73

- SGLT1 (SCL5A1) mutation (sodium glucose transporter) which also cotransports galactose - Diarrhoe with glucose or galactose (breast milk or lactose containing formulas) **lactose breaks down into glucose + galactose** - Acidic stols with reducing sugars, osmotic diarrhoea - Diarrhoea ceases immediately with removal of offending sugars Rx: fructose based formula

Answer 74

Congenital chloride diarrhoea - Life threatening secretary diarrhoea in 1st week of life - Metabolic alkalosis, hypochloremia, hypokalemia, hyponatremia (profuse loss of all electrolytes in stool) - Faecal chloride concentrations >90 Congenital sodium diarrhoea - Massive secretory diarrhoea and severe metabolic acidosis - Alkaline stools - Hyponatremia, with fecal Na >70 mmol/L Urine secretion of sodium low-normal Microvillous inclusion disease - MYO5B - Presents at birth with profuse watery secretory diarrhoea --> dehydration + FTT - Microscopy- diffuse thinning or mucosa with hypoplastic villous atrophy , than/absent brush border with intracellular inclusions - Hallmark= presence of microvilli within the involutions of apical membrane - No real treatment, most die in childhood - TPN Tufting enteropathy - Presents first weeks of life with persistent watery secretory diarrhoea - Biopsy- focal epithelial tufts in epithelial surface - TPN dependant

Answer 75

GI manifestation of CF- 15% of CF Common in teens and adults Most also have hx mec ileus Cramping RLQ pain, palpable mass, reduced stool frequency Management- same as constipation; surgery if refractory to medical management Other GI manifestation of CF- rectal prolapse (20%)

Answer 76

Shwachman diamond syndrome AR Pancreatic insufficiency + BM dysfunction (neutropenia most common, other call lines can also be affected) + skeletal abnormalities (dysplasias) + SS Pearson syndrome Mitochondrial mutation Presents in infancy with severe bone marrow failure - severe macrocytic anemia + variable thrombodytopenia + neutropenia Pancreatic fibrosis --> pancreatic insufficiency Liver: hepatomegaly, steatosis, cirrhosis Renal tubular disease No skeletal abnormalities Johanson-Blizzard syndrome Hypoplasia of nasal alae exocrine pancreatic insufficiency congenital deafness

Answer 77

Acute liver failure in neonate Overwhelming activation of normal T lymphocytes and histocytes Can be genetic (primary) or secondary Secondary - EBV most common trigger Diagnostic criteria- gene identified OR 5 out of 9- fever, splenomegaly, 2 cell lines cytopenia, increased triglyceride, low fibrinogen, high ferritin (in thousands), low NK activity, haemophagocytosis on biopsy, elevated CD25

Answer 78

PSINK- familial pancreatitis NOTCH2/JAG1- Alagille syndrome (JAG1 more common) SERPINA1- A1AT deficiency (PiZZ) STK11- Peutz Jager RET- Hirschprungs ATP7B- Wilsons disease UGTP81 Gilberts syndrome SBDS Schwachman- Diamond Syndrome

Answer 79

Immune dysregulation polyadenopathy enteropathy x linked syndrome Early onset insulin dependant DM Enteropathy = Severe watery diarrhoea Dermatitis Ix: mutation in FOXP3 gene Rx: HSCT

Answer 80

which HLA has highest risk coeliac disease

Answer 81

B2 (riboflavin)

Answer 82

- Deficiency= beriberi(peripheral neuritis, reduced tendon reflexes, cramping leg muscles, heart failure, psychological disturbances), weakness, oedema, wernikes encephalopathy

Answer 83

B3 (niacin)

Answer 84

glucose + galactose

Answer 85

fructose transport

Answer 86

glucose transport

Answer 87

110-250 mmol

Answer 88

75-300 mmol

Answer 89

40-100 mmol

Answer 90

The main toxicity following paracetamol poisoning is acute liver injury which results from the formation of a toxic metabolite of paracetamol, N-acetyl-p-benzoquinone imine (NAPQI). In adults taking therapeutic doses, paracetamol is metabolised into two major non-toxic metabolites – sulphate and glucuronide conjugates – which account for 30% and 55% of paracetamol metabolism. NAPQI, is formed in small amounts following a therapeutic dose of paracetamol. It is a highly reactive toxic metabolite formed by cytochrome P450 2E1 and is responsible for the hepatocellular injury that occurs with paracetamol toxicity. The small amounts of NAPQI produced after therapeutic doses are detoxified by irreversible glutathione-dependent conjugation reactions to two non-toxic metabolites. In overdose, the increased formation of NAPQI depletes glutathione and once glutathione is depleted by more than two-thirds it covalently binds to critical cellular proteins. It is hypothesised that this results in loss of activity of critical proteins and eventually hepatic cell death. To summarise, NAPQI is bad, in therapeutic doses glutathione can make in non-toxic. In overdose the glutathione mechanism is overwhelmed. Hence NAC works as a glutathione donor preventing NAPQI accumulation

Answer 91

look well , well grown feeding well mild jaundice (conjugated) acholic stools dark urine elevated AST and GGT

Answer 92

MM- normal ZZ- liver and lung disease SS- liver and lung disease null/null - lung disease only M/other- normal ish **A1AT level is an acute phase reactant and is normal when sick, so need to do a genotype/phenotype **

Answer 93

active viral replication

Answer 94

Hep B surface antigen E antigen becomes positive slightly later

Answer 95

immunity either vaccination or post infection

Answer 96

recent (IgM) or past (IgG) exposure to hep B virus ie infection this is a non protective antibody - doesnt indicate recovery (only exposure) can mean past or present exposure

Answer 97

current infection

Answer 98

somatostatin

Answer 99

NOD2 (CARD15)

Answer 100

CD- ASCA positive UC- pANACA positive- this also predisposes to PSC

Gastroenterology Flashcards

(130 cards)