Inherited Renal Disorders Flashcards
Where does the genetic mutation occur in autosomal dominant polycystic disease?
PKD1 gene on chromosome 16
In autosomal dominant PKD, where does cyst enlargement occur?
Renal tubules
Give some clinical features of autosomal dominant PKD
Chronic pain
Decreased urine concentration
Hypertension
Haematuria
What is the commonest extra-renal feature of autosomal dominant PKD?
Hepatic cysts
What are some other features of autosomal dominant PKD?
Intra-cranial aneurysms
Heart valve disease
Diverticular disease
Hernias
What imaging is mainly used to diagnose autosomal dominant PKD?
Ultrasound
How is autosomal dominant PKD managed?
Hypertension control
Hydration
Tolvaptan (carbonic anhydrase inhibitor)
Dialysis
What extra-renal feature is autosomal recessive PKD associated with?
Hepatic lesions
What gene is affected in autosomal recessive PKD?
PKHD1 on chromosome 6
Cysts appear where in autosomal recessive PKD?
Collecting duct
Alport’s syndrome is a disorder of what type collagen?
Type IV
What is the characteristic feature of Alport’s?
Haematuria
Name some extra-renal features of Alports
Sensorineural deafness
Anterior lens displacement
How is Alport’s definitively diagnosed?
Renal biopsy
What is the classic appearance of Alport’s on biopsy?
Thickening of glomerular basement membrane
