Syndromes Flashcards
FAP
fibromatosis
Osteoma
Gardner syndrome
FAP CNS tumor (medulloblastoma and glia)
Turcot syndrome
Behcet’s disease
Oral ulcer
Genital ulcer
Uveitis
Plummer-Vinson syndrome
Esophageal web
Iron deficiency anemia
Beefy red tongue
Colon Polyp Mutations
Mutation in the APC gene Ch 5
K-ras mutation
P53 with COX mutation
Hamartomatous Polyp in GI
Mucocutaneous hyperpigmentation of lips, oral mucosa and genital skin
Inc risk for colorectal, breast, gyn cancer
AD
Peutz-Jhegers
Second important molecular pathway for colon carcinoma formation esp in right side
Microsatellite instability pathway(MSI)
Hereditary Nonpolyposis Colon Carcinoma (HNPCC) also poses risk for (3)
Colorectal
Ovarian
Endometrial
carcinoma
Colon carcinoma inc risk for
Streptococcus brevis endocarditis
Hypokelmia Metabolic Alkalosis Hypercalciuria Salt wasting Dehydration transporter mutation at LOH
Barter Syndrome
Hypokalemia Metabolic alkalosis Hypomagnesemia Hypocalciuria With tetany and spasm
Gitelmann Syndrome
Mild low Uridine Glucoronal Transferase activity due to autossomal recessive condition leading to increased UNCONJUGATED BILIRUBIN
Gilbert Syndrome
Absence of Uridine Glucoronyl Transferase leading to increased UNCONJUGATED BILIRUBIN
Criggler-Najjar Syndrome
Fatal kernicterus at birth
Deficient bilirubin canalicular transport protein, autosomal recessive leading to increased CONJUGATED bilirubin
Dubin-Johnson Syndrome
With Pitch dark liver
Deficient bilirubin canalicular transport protein, autosomal recessive leading to increased CONJUGATED bilirubin but NO discoloration
Rotor-Manahan-Florentin Syndrome
Transient autosomal recessive neonatal hyperbilirubinemia of UCONJUGATED bilirubin due to a metabolite of gestational hormone inhibiting UDP GT to conjugate bilirubin
Lucey-Driscoll Syndrome
Wavelength of blue light used in phototherapy
460-490 nm
How do you confirm success of Kasai procedure?
Microscopic channels of patency >150?um are found
Cells that promote fibrosis of the liver
Stellate cells
Mallory bodies
Seen in alcoholic hepatitis
Contain Damaged intermediate filaments
Elevated transaminase in alcoholic hepatitis
AST bec alcohol is toxic to mitochondria and this is found there
Primary Hemochromatosis occurs bec of mutation
HFE gene C282Y
Cirrhosis
Secondary Diabetes Mellitus
Bronze skin
Secondary Hemochromatosis
cardiac arrhythmia
gonadal dysfunction
Brown wear and tear pigment in hepatocytes from breakdown of peroxidase lipids in lysosome (ageing)
Lipofuscin
Prussian stain is used…
to differentiate iron deposition from lipofuscin
AR defect in ATP-mediated hepatocyte copper transport gene ATP7B leading to lack of Cu transport to bile
Wilson Disease
Molecule that carries copper in blood
ceruloplasmin
Deposition of copper in cornea
Kayser-Fleisher rjng
primary biliary cirrhosis is caused bt
antimitochondrial antibody
Pathognomonic of primary sclerosing cholangitis
Onion skin appearance (periductal fibrosis)
Related to ulcerative colitis
+ pANCA
Fulminant liver failure
Encephalopathy
Mitochondrial damage of hepatocytes in children with viral illness taking Aspirin
Reye syndrome
Infarct secondary to hepatic vein obstruction usually from hepatoca
Budd Chiari
Potter Sequence
Oligohydramnio Lung hypoplasia Bilateral renal agenesis Limb defects Flat face with low set ears
Dysplastic kidney disease is found
unilaterally usually in parenchyma, non inherited
PKD usually
inherited and bilateral with cyst in cortex and medulla
Autosomal recessive PKD presents with
Potter sequence and congenital hepatic fibrosis and cyst
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
autosomal dominant cyst in medulla and shrunken kidneys
Medullay Cystic kidney disease
Causes ATN
Aminoglycoside Metals Myoglobin Ethylene glycol Radiocontrast dye Urate
Causes AIN (3)
NSAID
PCN
Diuretics
Pathognomonic of Acute Interstitial Nephritis
Eosinophil in urine
FSGS risk factor (3)
HIV
Heroin use
Sickle cell disease
Nephritic syndrome in SLE
Diffuse Proliferative Glomerulonephritis
Nephrotic syndrome in SLE
Membranous nephropathy
EM of membranous nephropathy appears
Spike and dome
Pathognomonic of Membranoproliferative Glomerulonephritis
Tram track appearance
Type I Membranoproliferative Glomerulonephritis associated with (2)
Subendothelial deposition
1 HBV/HCV
2 Tram track appearance
Type II Membranoproliferative Glomerulonephritis associated with (1)
Intramembranous deposition
C3 nephritic factor
Stabilizes C3 convertase further upturning deposition, inflammation
Pathognomonic of diabetis mellitus kidney disease
Kimmelstiel-Wilson nodules from sclerosis of the mesangium
Most commonly involved organ in amyloidosis
Kidney
Pathognomonic of Systemic amyloidosis kidney injury
Apple-green birefringence in congo red staining polarized light
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
Nephritogenic strains of GABS carry virulencr factor
Protein M
Pathognomonic of RPGN
crescents in bowman space of fibrin and macrophages
Antibody against GBM creating sharp line in IF
Goodpasture Syndrome
Good pasture syndrome
Young adult males
Hematuria
Hemoptysis
Granular IF (Immune complex)
PSGN
Diffuse Proliferative Glomerulonephritis (subendothelial deposition, SLE mc nephritic)
Pauci immune (limited immune)
Perform ANCA (peri nuclear anticytoplasmic antibody)
C- ANCA Wegener’s granulomatosis
P - ANCA Churg-strauss Polyangitis
C -ANCA positive pauci IF
Wegener’s granulomatosis
C-ANCA positive pauci IF (2)
Microscopic polyangiitis
Churg-Strauss
Hematuria
Hemoptysis
RPGN
Goodpasture Syndrome
Hematuria
Hemoptysis
Nasal symptoms (sinusitis)
RPGN
Wegener granulomatosis
granulomatous inflammation
eosinophilia
asthma
P ANCA
Churg Strauss
X linked defect in Type IV collagen resulting in thinning and splitting of GBM
Alport Syndrome
Hematuria
Sensory hearing loss
Ocular disturbance
Alport syndrome
Causes alkaline urine with scent like ammonia
Proteus mirabilis
Thyroidization of kidney
Chronic Pyelonephritis
Most common type of kidney stone linked with Crohn’s disease
Calcium oxalate or calcium phosphate
Tx of calcium oxalate/phosphate
Hydrochlorthiazide (Ca sparing diuretic)
Most common cause is infection with ureasd positive organism (Proteus and Kleb) leading to alkaline urinea
Ammonium magnesium phosphate
Tx of aluminum magnesium phosphate
Surgery
Antimicrobial
Staghorn calculi
Ammonium magnesium phosphate
Third most common stone, radiolucent on xray due to hot climate, low urine volume and acidic ph
Uric acid stone
Uric acid stone tx
Hydration
Alkalinization
potasaium bicarbonate
Allopurinol
Rare cause of stone often children with genetic defect of tubules
Also produces staghorn caliculi
Cystein
Staghorn caliculi in children
Cysteine
Cysteine stone tx
Hydration
alkalinization
EPO is produced by
renal peritubular interstitial cells
Renal osteodystrophy (3)
1 oseitis fibrosa cystica (PTH inc)
2 osteomalacia (cannot mineralize osteoid by osteoblast)
3 osteoporosis
Patients with ESKD in dialysis and shrunken cystic kidney are at risk for
Renal cell carcinoma
Angiomyolipoma assoc with
Tuberous sclerosis
Hematuria
Palpable mass
Flank pain
Renal cell carcinoma of tubule
Paraneoplastic syndromes in RCC (4)
Release of 1 EPO 2 renin 3 PTHrP 4 ACTH
RCC also causes
Left sided varicocele
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
Most common subtype of RCC
clear cell subtype
Pathogenesis of RCC
Loss of VHL 3p tsg
Loss of VHL leads to (2)
1 inc IGF 1 (promotes growth)
2 inc HIF transcription factor (inc VEGF PDGF)
Single
Tumor on upper pole of kidney
Smoker
Sporadic RCC
ad assoc with inactivation of VHL gene
increased risk of hemangioblastoma of cerebellum and rcc
VHL
Most common malignant renal tumor in children
Wilms Tumor
Wilm tumor hallmark cell
blastema
Unilateral flank mass large
Hematuria
HTN from renin
Wilms tumor
Mutation of wilms tumor
WT1
WAGR Syndrome
Wilms
Aniridua
Genital anomaly
Mental and motor retardarion
Beckwith-Wiedemann Syndrome (4)
Wilms
Neonatal hypoglycemia
Muscular hemihypertrophy
Organomegaly (tongue)
Most common type of lower urinary tract cancer
Urothelial carcinoma bladder
Component in cigarette that inc risk of urothelial carcinoma
Polycyclic aromatic hydrocarbon
Naphthylamine
Azo dyes inc risk for
Urothelial carcinoma
Urothelial carcinoma rf (3)
1 smoking
2 azo dye
3 cyclophosphamide phenacitin
Pathways of UTC 2
1 Flat early P53 mutation (high grade - invades) 2 Papillary (low grade - high grade - invades)
Urothelial carcinoma is recurrent and multifocal because of
Field defect epithelial surface of entire field mutated
Squamous cell carcinoma of bladder rf
Chronic cystitis
Schistosoma hematobium
Long standing neph
Adenocarcinoma arise from (3)
Urachal remnant lined by glandular cell
Cystitis glandularis
Exstrophy
Adenocarcinoma from urachal remnant arises at
dome of bladder
Machinery murmur
Bounding pulse
CHF
PDA
Intestinal ischemia
Entersl nutrition
Bacterial translocation
NEC
VACTERL
Vertebral defect Anal atresia Cardiac defect Tracheoesophageal fistula Renal anomalies Limb anomalies
