inherited kidney disorders Flashcards
what is the most common mutation causing autosomal dominant polycystic kidney disease (ADPKD)?
PKD gene-1 on chromosome 16 (develops end stage renal failure at and earlier stage)
rarer PKD2 mutations on chromosome 4
what ate the clinical features of ADPKD?
Reduced urine concentration ability
Chronic pain
Hypertension-common, early 30s
Haematuria- cyst rupture, cystitis, stones
Cyst Infection
Renal Failure
describe the extra renal features of ADPKD
hepatic cysts- occur 10 years after renal cysts, liver function generally preserved, cause SOB, pain, ankle swelling
intra cranial aneurysms - 4-8% of patients in families, mainly in anterior circulation
also see cardiac disease, valvular disease, diverticular disease an hernias
how do you diagnose ADPKD?
radiology - ultrasound to look for bilateral cysts, renal enlargement, CT/MRI if US unclear
genetic testing - linkage analysis, mutation analysis
when can the onset of ADPKD be in children?
in utero or first year of life, in children a single cyst can be enough for diagnosis in a high risk patient
what is the risk of passing ADPKD to children?
50%
what is the management of ADPKD?
rigorous control of hypertension
Hydration
Proteinuria reduction
tolvaptan- reduces cyst volume and progression
in renal failure - dialysis, transplantation
what is the presentation of ARPKD?
bilateral, symmetrical renal involvement
normal urinary tract
palpable kidneys
hypertension
recurrent UTIs
slow decline in GFR <1/3 need dialysis
what is alport syndrome?
x-linked (can be dominant or recessive) disorder of type IV collagen matrix leading to deficient collagenous matrix deposition
presentation- haematuria, proteinuria seen later - bad prognosis
sensorineural hearing loss, ocular defects- anterior lenticonus, leiomyomatosis of oesophagus/genitalia- rare
how do you diagnose alports syndrome?
renal biopsy - variable GBM thickness is suggestive
what is the management of alports syndrome?
aggressive treatment of hypertension and proteinuria
dialysis, transplantation
what is anderson fabrys disease?
inborn error of glycosphingolipid metabolism (a-galactosidase A deficiency) , x-linked
presents with renal failure, angiokeratoma, cardiomyopathy + valvular disease, stroke, acroparaesthesia and psychiatric problems
how do you diagnose fabrys disease?
Plasma /Leukocyte a-GAL activity
Renal Biopsy
Skin Biopsy
what is the treatment of fabrys disease?
Enzyme replacement-Fabryzyme
Management of Complications
what is medullary cystic kidney disease?
rare autosomal dominant disease
abnormal renal tubules lead to fibrosis
can have small kidneys and/or cysts in the corticomedullary junction or medulla
usually presents in late 20s - transplant is treatment of choice
