This is a very short video covering three genetic diseases that affect the kidneys: autosomal dominant polycystic kidney disease, Alport syndrome, and Fabry disease.
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ADDITIONAL TAGS:
Genetic disorders
of the kidneys
autosomal dominant polycystic kidney disease
Alport syndrome
Fabry disease
Autosomal dominant
polycystic kidney disease
Most common inherited kidney disease (prevalence of 1/500)
Mutations in genes PKD1 or PKD2, defective ciliary proteins; Polycystin1 or Polycystin2; PKD1 mutation is worse
Symptoms: Renal failure, hypertension, intermittent hematuria, pain, nephrolithiasis (stones), infections (and pyelonephritis)
Extrarenal: cysts (liver, pancreas, ovaries); aneurysms (coronary, thoracic, intracranial); MV prolapse; male infertility
Prognosis: larger kidney = worse; no treatments
autosomal dominant polycystic kidney disease
Alport syndrome
Fabry disease
Alport syndrome
X-linked, dominant or recessive (prevalence of 1/4000)
Mutations affecting GBM collagen type 4 (α5 chain most common, α3 and α4 less common, not x-linked)
Symptoms: blood in urine (carriers have microscopic hematuria), protein in urine; hearing loss; visual loss (lenticonus); benign smooth muscle tumors (leiomyomas)
Electron microscopy: splitting of basement membrane (lamellation) and alternating thickening and thinning of BM
Biopsy isn’t always reliable; diagnose with genetic testing
autosomal dominant polycystic kidney disease
Alport syndrome
Fabry disease
Fabry disease
X-linked, recessive (prevalence of 1/3100)
Mutations affecting enzyme α-galactosidase A alpha-galactosidase alpha galactosidase ; glycosphingolipids accumulate in cells
Renal: proteinuria; decreased eGFR; 50% get ESRD by 50 y/o
Multisystemic symptoms: angiokeratomas on skin of trunk and groin; corneal whorl in the eye; diarrhea; early artherosclerotic disease and heart failure; pain/numbness/tingling in fingers/toes (acroparesthesias)
Diagnose: α-galactosidase levels in men; genetic testing in women
autosomal dominant polycystic kidney disease
Alport syndrome
Fabry disease
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| Education | Upload TimePublished on 24 Feb 2016 |
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