Inherited Kidney Diseases Flashcards
what is APKD
autosomal dominant polycystic kidney disease
what do 85% of pts have a mutation in (APKD d)
PKD1 (chromosome 16). the remainder have a mutation PKD2 (chromosome 4)
what age do those with mutation in PKD1 reach ESRF and those with PKD2 (APKD d)
in the 50s (1), and in the 70s (2)
signs APKD dom
renal enlargement with cysts, abdo pain and haematuria, cyst infection, renal calculi, incr bp, progressive renal failure
extra renal signs APKD dom
liver cysts, intra cran aneurysm- sub arach hem, mitral valve prolapse, ovarian cysts, diverticular disease
treatment APKD dom
monitor U&E, incr bp treat ACEi. treat infections. dialysis or transplants ESRF, nephrectomy or cyst removal. incr water intake, decr Na+ intake, avoid caffeine
how many cysts present in USS in a) 18-39 years. b) 40-59 years. c) >60 years. (APKD dom)
a) >3 cysts uni or bi lateral. b) >2 cysts in each kidney. c) >4 cysts in each kidney
which is rare in prevalence APKD dominant or recessive
recessive: 1:40,000 compared to 1:1000 for dominant
signs of recessive APKD
many present in infancy, with multiple renal cysts and congenital hepatic fibrosis
what is medullary cystic disease
tubular loss and medullary cyst formation. juvenile counts for 10% ESRF in children adult form rare.
signs medullary cystic disease
shrunken kidneys, cysts in renal medulla, salt wasting, polyuria, polydipsia, enuresis, failure to thrive, renal impairment
what are renal phakomatoses
neuroectodermal syndromes- tuberous sclerosis, Von Hippel-Lindau syndrome
what is the chief cause of inherited renal cancers
Von Hippel-Lindau syndrome
what is Alport syndrome
85% cases x linked, mutations in COL4A5 gene encoding alpha 5 chain of type IV collagen
signs Alport
haematuria, proteinuria, progressive renal insufficiency. systemic manifestations- sensorineural defects and ocular defects
