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Syndromes Flashcards

1
Q

FAP
fibromatosis
Osteoma

A

Gardner syndrome

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2
Q 
FAP
CNS tumor (medulloblastoma and glia)
A

Turcot syndrome

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3
Q

Behcet’s disease

A

Oral ulcer
Genital ulcer
Uveitis

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4
Q

Plummer-Vinson syndrome

A

Esophageal web
Iron deficiency anemia
Beefy red tongue

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5
Q

Colon Polyp Mutations

A

Mutation in the APC gene Ch 5
K-ras mutation
P53 with COX mutation

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6
Q

Hamartomatous Polyp in GI
Mucocutaneous hyperpigmentation of lips, oral mucosa and genital skin
Inc risk for colorectal, breast, gyn cancer
AD

A

Peutz-Jhegers

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7
Q

Second important molecular pathway for colon carcinoma formation esp in right side

A

Microsatellite instability pathway(MSI)

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8
Q

Hereditary Nonpolyposis Colon Carcinoma (HNPCC) also poses risk for (3)

A

Colorectal
Ovarian
Endometrial
carcinoma

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9
Q

Colon carcinoma inc risk for

A

Streptococcus brevis endocarditis

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10
Q 
Hypokelmia
Metabolic Alkalosis
Hypercalciuria
Salt wasting
Dehydration
transporter mutation at LOH
A

Barter Syndrome

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11
Q 
Hypokalemia
Metabolic alkalosis
Hypomagnesemia
Hypocalciuria
With tetany and spasm
A

Gitelmann Syndrome

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12
Q

Mild low Uridine Glucoronal Transferase activity due to autossomal recessive condition leading to increased UNCONJUGATED BILIRUBIN

A

Gilbert Syndrome

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13
Q

Absence of Uridine Glucoronyl Transferase leading to increased UNCONJUGATED BILIRUBIN

A

Criggler-Najjar Syndrome

Fatal kernicterus at birth

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14
Q

Deficient bilirubin canalicular transport protein, autosomal recessive leading to increased CONJUGATED bilirubin

A

Dubin-Johnson Syndrome

With Pitch dark liver

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15
Q

Deficient bilirubin canalicular transport protein, autosomal recessive leading to increased CONJUGATED bilirubin but NO discoloration

A

Rotor-Manahan-Florentin Syndrome

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16
Q

Transient autosomal recessive neonatal hyperbilirubinemia of UCONJUGATED bilirubin due to a metabolite of gestational hormone inhibiting UDP GT to conjugate bilirubin

A

Lucey-Driscoll Syndrome

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17
Q

Wavelength of blue light used in phototherapy

A

460-490 nm

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18
Q

How do you confirm success of Kasai procedure?

A

Microscopic channels of patency >150?um are found

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19
Q

Cells that promote fibrosis of the liver

A

Stellate cells

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20
Q

Mallory bodies

A

Seen in alcoholic hepatitis

Contain Damaged intermediate filaments

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21
Q

Elevated transaminase in alcoholic hepatitis

A

AST bec alcohol is toxic to mitochondria and this is found there

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22
Q

Primary Hemochromatosis occurs bec of mutation

A

HFE gene C282Y

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23
Q

Cirrhosis
Secondary Diabetes Mellitus
Bronze skin

A

Secondary Hemochromatosis

cardiac arrhythmia
gonadal dysfunction

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24
Q

Brown wear and tear pigment in hepatocytes from breakdown of peroxidase lipids in lysosome (ageing)

A

Lipofuscin

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25
Prussian stain is used...
to differentiate iron deposition from lipofuscin
26
AR defect in ATP-mediated hepatocyte copper transport gene ATP7B leading to lack of Cu transport to bile
Wilson Disease
27
Molecule that carries copper in blood
ceruloplasmin
28
Deposition of copper in cornea
Kayser-Fleisher rjng
29
primary biliary cirrhosis is caused bt
antimitochondrial antibody
30
Pathognomonic of primary sclerosing cholangitis
Onion skin appearance (periductal fibrosis) Related to ulcerative colitis + pANCA
31
Fulminant liver failure Encephalopathy Mitochondrial damage of hepatocytes in children with viral illness taking Aspirin
Reye syndrome
32
Infarct secondary to hepatic vein obstruction usually from hepatoca
Budd Chiari
33
Potter Sequence
``` Oligohydramnio Lung hypoplasia Bilateral renal agenesis Limb defects Flat face with low set ears ```
34
Dysplastic kidney disease is found
unilaterally usually in parenchyma, non inherited
35
PKD usually
inherited and bilateral with cyst in cortex and medulla
36
Autosomal recessive PKD presents with
Potter sequence and congenital hepatic fibrosis and cyst
37
Autosominak Dominant PKD in adults result from mutation in
APKD1 & 2 Htn inc Renin Hematuria Renal failure Assoc with berry aneurysm, hepatic cyst and mv prolapse
38
autosomal dominant cyst in medulla and shrunken kidneys
Medullay Cystic kidney disease
39
Causes ATN
``` Aminoglycoside Metals Myoglobin Ethylene glycol Radiocontrast dye Urate ```
40
Causes AIN (3)
NSAID PCN Diuretics
41
Pathognomonic of Acute Interstitial Nephritis
Eosinophil in urine
42
FSGS risk factor (3)
HIV Heroin use Sickle cell disease
43
Nephritic syndrome in SLE
Diffuse Proliferative Glomerulonephritis
44
Nephrotic syndrome in SLE
Membranous nephropathy
45
EM of membranous nephropathy appears
Spike and dome
46
Pathognomonic of Membranoproliferative Glomerulonephritis
Tram track appearance
47
Type I Membranoproliferative Glomerulonephritis associated with (2)
Subendothelial deposition 1 HBV/HCV 2 Tram track appearance
48
Type II Membranoproliferative Glomerulonephritis associated with (1)
Intramembranous deposition C3 nephritic factor Stabilizes C3 convertase further upturning deposition, inflammation
49
Pathognomonic of diabetis mellitus kidney disease
Kimmelstiel-Wilson nodules from sclerosis of the mesangium
50
Most commonly involved organ in amyloidosis
Kidney
51
Pathognomonic of Systemic amyloidosis kidney injury
Apple-green birefringence in congo red staining polarized light
52
Nephrotic Syndromes causes (6)
(1) Effacement of foot process •Minimal Change Disease •Focal Segmental Glomerulonephritis (2) Complex deposition • Membranous nephropathy • Membranoproliferative Glomerulonephritis (3) Systemic • DM nonezymatic glycosilation of vessel in BM (hyaline arteriolosclerosis in effferent arteriole) • Systemic amyloidosis amyloid deposit in mesangium
53
Nephritogenic strains of GABS carry virulencr factor
Protein M
54
Pathognomonic of RPGN
crescents in bowman space of fibrin and macrophages
55
Antibody against GBM creating sharp line in IF
Goodpasture Syndrome
56
Good pasture syndrome | Young adult males
Hematuria | Hemoptysis
57
Granular IF (Immune complex)
PSGN | Diffuse Proliferative Glomerulonephritis (subendothelial deposition, SLE mc nephritic)
58
Pauci immune (limited immune)
Perform ANCA (peri nuclear anticytoplasmic antibody) C- ANCA Wegener’s granulomatosis P - ANCA Churg-strauss Polyangitis
59
C -ANCA positive pauci IF
Wegener’s granulomatosis
60
C-ANCA positive pauci IF (2)
Microscopic polyangiitis | Churg-Strauss
61
Hematuria Hemoptysis RPGN
Goodpasture Syndrome
62
Hematuria Hemoptysis Nasal symptoms (sinusitis) RPGN
Wegener granulomatosis
63
granulomatous inflammation eosinophilia asthma P ANCA
Churg Strauss
64
X linked defect in Type IV collagen resulting in thinning and splitting of GBM
Alport Syndrome
65
Hematuria Sensory hearing loss Ocular disturbance
Alport syndrome
66
Causes alkaline urine with scent like ammonia
Proteus mirabilis
67
Thyroidization of kidney
Chronic Pyelonephritis
68
Most common type of kidney stone linked with Crohn’s disease
Calcium oxalate or calcium phosphate
69
Tx of calcium oxalate/phosphate
Hydrochlorthiazide (Ca sparing diuretic)
70
Most common cause is infection with ureasd positive organism (Proteus and Kleb) leading to alkaline urinea
Ammonium magnesium phosphate
71
Tx of aluminum magnesium phosphate
Surgery | Antimicrobial
72
Staghorn calculi
Ammonium magnesium phosphate
73
Third most common stone, radiolucent on xray due to hot climate, low urine volume and acidic ph
Uric acid stone
74
Uric acid stone tx
Hydration Alkalinization potasaium bicarbonate Allopurinol
75
Rare cause of stone often children with genetic defect of tubules Also produces staghorn caliculi
Cystein
76
Staghorn caliculi in children
Cysteine
77
Cysteine stone tx
Hydration | alkalinization
78
EPO is produced by
renal peritubular interstitial cells
79
Renal osteodystrophy (3)
1 oseitis fibrosa cystica (PTH inc) 2 osteomalacia (cannot mineralize osteoid by osteoblast) 3 osteoporosis
80
Patients with ESKD in dialysis and shrunken cystic kidney are at risk for
Renal cell carcinoma
81
Angiomyolipoma assoc with
Tuberous sclerosis
82
Hematuria Palpable mass Flank pain
Renal cell carcinoma of tubule
83
Paraneoplastic syndromes in RCC (4)
``` Release of 1 EPO 2 renin 3 PTHrP 4 ACTH ```
84
RCC also causes
Left sided varicocele
85
Left sided varicocele in RCC occurs bec
blockage of left renal vein by tumor where spermatic vein also drains not in right bec spermatic vein drains directly to the ivc
86
Most common subtype of RCC
clear cell subtype
87
Pathogenesis of RCC
Loss of VHL 3p tsg
88
Loss of VHL leads to (2)
1 inc IGF 1 (promotes growth) | 2 inc HIF transcription factor (inc VEGF PDGF)
89
Single Tumor on upper pole of kidney Smoker
Sporadic RCC
90
ad assoc with inactivation of VHL gene | increased risk of hemangioblastoma of cerebellum and rcc
VHL
91
Most common malignant renal tumor in children
Wilms Tumor
92
Wilm tumor hallmark cell
blastema
93
Unilateral flank mass large Hematuria HTN from renin
Wilms tumor
94
Mutation of wilms tumor
WT1
95
WAGR Syndrome
Wilms Aniridua Genital anomaly Mental and motor retardarion
96
Beckwith-Wiedemann Syndrome (4)
Wilms Neonatal hypoglycemia Muscular hemihypertrophy Organomegaly (tongue)
97
Most common type of lower urinary tract cancer
Urothelial carcinoma bladder
98
Component in cigarette that inc risk of urothelial carcinoma
Polycyclic aromatic hydrocarbon | Naphthylamine
99
Azo dyes inc risk for
Urothelial carcinoma
100
Urothelial carcinoma rf (3)
1 smoking 2 azo dye 3 cyclophosphamide phenacitin
101
Pathways of UTC 2
``` 1 Flat early P53 mutation (high grade - invades) 2 Papillary (low grade - high grade - invades) ```
102
Urothelial carcinoma is recurrent and multifocal because of
Field defect epithelial surface of entire field mutated
103
Squamous cell carcinoma of bladder rf
Chronic cystitis Schistosoma hematobium Long standing neph
104
Adenocarcinoma arise from (3)
Urachal remnant lined by glandular cell Cystitis glandularis Exstrophy
105
Adenocarcinoma from urachal remnant arises at
dome of bladder
106
Machinery murmur Bounding pulse CHF
PDA
107
Intestinal ischemia Entersl nutrition Bacterial translocation
NEC
108
VACTERL
``` Vertebral defect Anal atresia Cardiac defect Tracheoesophageal fistula Renal anomalies Limb anomalies ```

Pathology (24 decks)

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