familial juvenile hyperuricemic nephropathy (HNFJ)
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Pathology
- interstitial pathology resulting in fibrosis
- cystic changes absent or infrequent
Genetics
- autosomal dominant
- associated with defects in UMOD (type 1)[1]
- associated with defects in renin (type 2)[2]
Clinical manifestations
- juvenile onset
- hyperuricemia & gout
- polyuria
- progressive renal failure
Laboratory
- serum uric acid: hyperuricemia
- complete blood count: anemia (type 2)
Differential diagnosis
- considered allelic variant of medullary cystic disease 2
- glomerulocystic kidney disease