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familial juvenile hyperuricemic nephropathy (HNFJ)

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

General

genetic disease of the kidney

Database Correlations

OMIM correlations

References

  1. OMIM :accession 162000
  2. OMIM :accession 613092