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Pathology > Syndromes > Flashcards

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
Q

Prussian stain is used…

A

to differentiate iron deposition from lipofuscin

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26
Q

AR defect in ATP-mediated hepatocyte copper transport gene ATP7B leading to lack of Cu transport to bile

A

Wilson Disease

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27
Q

Molecule that carries copper in blood

A

ceruloplasmin

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28
Q

Deposition of copper in cornea

A

Kayser-Fleisher rjng

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29
Q

primary biliary cirrhosis is caused bt

A

antimitochondrial antibody

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30
Q

Pathognomonic of primary sclerosing cholangitis

A

Onion skin appearance (periductal fibrosis)
Related to ulcerative colitis
+ pANCA

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31
Q

Fulminant liver failure
Encephalopathy
Mitochondrial damage of hepatocytes in children with viral illness taking Aspirin

A

Reye syndrome

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32
Q

Infarct secondary to hepatic vein obstruction usually from hepatoca

A

Budd Chiari

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33
Q

Potter Sequence

A 
Oligohydramnio
Lung hypoplasia
Bilateral renal agenesis
Limb defects
Flat face with low set ears
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34
Q

Dysplastic kidney disease is found

A

unilaterally usually in parenchyma, non inherited

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35
Q

PKD usually

A

inherited and bilateral with cyst in cortex and medulla

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36
Q

Autosomal recessive PKD presents with

A

Potter sequence and congenital hepatic fibrosis and cyst

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37
Q

Autosominak Dominant PKD in adults result from mutation in

A

APKD1 & 2

Htn inc Renin
Hematuria
Renal failure
Assoc with berry aneurysm, hepatic cyst and mv prolapse

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38
Q

autosomal dominant cyst in medulla and shrunken kidneys

A

Medullay Cystic kidney disease

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39
Q

Causes ATN

A 
Aminoglycoside
Metals
Myoglobin
Ethylene glycol
Radiocontrast dye
Urate
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40
Q

Causes AIN (3)

A

NSAID
PCN
Diuretics

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41
Q

Pathognomonic of Acute Interstitial Nephritis

A

Eosinophil in urine

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42
Q

FSGS risk factor (3)

A

HIV
Heroin use
Sickle cell disease

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43
Q

Nephritic syndrome in SLE

A

Diffuse Proliferative Glomerulonephritis

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44
Q

Nephrotic syndrome in SLE

A

Membranous nephropathy

45
Q

EM of membranous nephropathy appears

A

Spike and dome

46
Q

Pathognomonic of Membranoproliferative Glomerulonephritis

A

Tram track appearance

47
Q

Type I Membranoproliferative Glomerulonephritis associated with (2)

A

Subendothelial deposition

1 HBV/HCV
2 Tram track appearance

48
Q

Type II Membranoproliferative Glomerulonephritis associated with (1)

A

Intramembranous deposition

C3 nephritic factor
Stabilizes C3 convertase further upturning deposition, inflammation

49
Q

Pathognomonic of diabetis mellitus kidney disease

A

Kimmelstiel-Wilson nodules from sclerosis of the mesangium

50
Q

Most commonly involved organ in amyloidosis

A

Kidney

51
Q

Pathognomonic of Systemic amyloidosis kidney injury

A

Apple-green birefringence in congo red staining polarized light

52
Q

Nephrotic Syndromes causes (6)

A

(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
Q

Nephritogenic strains of GABS carry virulencr factor

A

Protein M

54
Q

Pathognomonic of RPGN

A

crescents in bowman space of fibrin and macrophages

55
Q

Antibody against GBM creating sharp line in IF

A

Goodpasture Syndrome

56
Q

Good pasture syndrome

Young adult males

A

Hematuria

Hemoptysis

57
Q

Granular IF (Immune complex)

A

PSGN

Diffuse Proliferative Glomerulonephritis (subendothelial deposition, SLE mc nephritic)

58
Q

Pauci immune (limited immune)

A

Perform ANCA (peri nuclear anticytoplasmic antibody)
C- ANCA Wegener’s granulomatosis
P - ANCA Churg-strauss Polyangitis

59
Q

C -ANCA positive pauci IF

A

Wegener’s granulomatosis

60
Q

C-ANCA positive pauci IF (2)

A

Microscopic polyangiitis

Churg-Strauss

61
Q

Hematuria
Hemoptysis
RPGN

A

Goodpasture Syndrome

62
Q

Hematuria
Hemoptysis
Nasal symptoms (sinusitis)
RPGN

A

Wegener granulomatosis

63
Q

granulomatous inflammation
eosinophilia
asthma
P ANCA

A

Churg Strauss

64
Q

X linked defect in Type IV collagen resulting in thinning and splitting of GBM

A

Alport Syndrome

65
Q

Hematuria
Sensory hearing loss
Ocular disturbance

A

Alport syndrome

66
Q

Causes alkaline urine with scent like ammonia

A

Proteus mirabilis

67
Q

Thyroidization of kidney

A

Chronic Pyelonephritis

68
Q

Most common type of kidney stone linked with Crohn’s disease

A

Calcium oxalate or calcium phosphate

69
Q

Tx of calcium oxalate/phosphate

A

Hydrochlorthiazide (Ca sparing diuretic)

70
Q

Most common cause is infection with ureasd positive organism (Proteus and Kleb) leading to alkaline urinea

A

Ammonium magnesium phosphate

71
Q

Tx of aluminum magnesium phosphate

A

Surgery

Antimicrobial

72
Q

Staghorn calculi

A

Ammonium magnesium phosphate

73
Q

Third most common stone, radiolucent on xray due to hot climate, low urine volume and acidic ph

A

Uric acid stone

74
Q

Uric acid stone tx

A

Hydration
Alkalinization
potasaium bicarbonate
Allopurinol

75
Q

Rare cause of stone often children with genetic defect of tubules

Also produces staghorn caliculi

A

Cystein

76
Q

Staghorn caliculi in children

A

Cysteine

77
Q

Cysteine stone tx

A

Hydration

alkalinization

78
Q

EPO is produced by

A

renal peritubular interstitial cells

79
Q

Renal osteodystrophy (3)

A

1 oseitis fibrosa cystica (PTH inc)
2 osteomalacia (cannot mineralize osteoid by osteoblast)
3 osteoporosis

80
Q

Patients with ESKD in dialysis and shrunken cystic kidney are at risk for

A

Renal cell carcinoma

81
Q

Angiomyolipoma assoc with

A

Tuberous sclerosis

82
Q

Hematuria
Palpable mass
Flank pain

A

Renal cell carcinoma of tubule

83
Q

Paraneoplastic syndromes in RCC (4)

A 
Release of
1 EPO
2 renin
3 PTHrP
4 ACTH
84
Q

RCC also causes

A

Left sided varicocele

85
Q

Left sided varicocele in RCC occurs bec

A

blockage of left renal vein by tumor where spermatic vein also drains not in right bec spermatic vein drains directly to the ivc

86
Q

Most common subtype of RCC

A

clear cell subtype

87
Q

Pathogenesis of RCC

A

Loss of VHL 3p tsg

88
Q

Loss of VHL leads to (2)

A

1 inc IGF 1 (promotes growth)

2 inc HIF transcription factor (inc VEGF PDGF)

89
Q

Single
Tumor on upper pole of kidney
Smoker

A

Sporadic RCC

90
Q

ad assoc with inactivation of VHL gene

increased risk of hemangioblastoma of cerebellum and rcc

A

VHL

91
Q

Most common malignant renal tumor in children

A

Wilms Tumor

92
Q

Wilm tumor hallmark cell

A

blastema

93
Q

Unilateral flank mass large
Hematuria
HTN from renin

A

Wilms tumor

94
Q

Mutation of wilms tumor

A

WT1

95
Q

WAGR Syndrome

A

Wilms
Aniridua
Genital anomaly
Mental and motor retardarion

96
Q

Beckwith-Wiedemann Syndrome (4)

A

Wilms
Neonatal hypoglycemia
Muscular hemihypertrophy
Organomegaly (tongue)

97
Q

Most common type of lower urinary tract cancer

A

Urothelial carcinoma bladder

98
Q

Component in cigarette that inc risk of urothelial carcinoma

A

Polycyclic aromatic hydrocarbon

Naphthylamine

99
Q

Azo dyes inc risk for

A

Urothelial carcinoma

100
Q

Urothelial carcinoma rf (3)

A

1 smoking
2 azo dye
3 cyclophosphamide phenacitin

101
Q

Pathways of UTC 2

A 
1 Flat early P53 mutation (high grade - invades)
2 Papillary (low grade - high grade - invades)
102
Q

Urothelial carcinoma is recurrent and multifocal because of

A

Field defect epithelial surface of entire field mutated

103
Q

Squamous cell carcinoma of bladder rf

A

Chronic cystitis
Schistosoma hematobium
Long standing neph

104
Q

Adenocarcinoma arise from (3)

A

Urachal remnant lined by glandular cell
Cystitis glandularis
Exstrophy

105
Q

Adenocarcinoma from urachal remnant arises at

A

dome of bladder

106
Q

Machinery murmur
Bounding pulse
CHF

A

PDA

107
Q

Intestinal ischemia
Entersl nutrition
Bacterial translocation

A

NEC

108
Q

VACTERL

A 
Vertebral defect
Anal atresia
Cardiac defect
Tracheoesophageal fistula
Renal anomalies
Limb anomalies

Pathology (24 decks)

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