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Familial Juvenile Hyperuricemic Nephropathy and Autosomal Dominant Medullary Cystic Kidney Disease Type 2

1 Nov 2001

Abstract excerpt

Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal dominant disorder heralded by hyperuricemia during childhood; it is characterized by chronic interstitial nephritis, with marked thickening of tubular basement membranes, and leads to progressive renal failure during adulthood. A gene for FJHN in two Czech families was recently mapped to chromosome 16p11.2, close to the MCKD2 locus, which is...

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Share to Gout, Hyperuricemia, Uric Acid
Share to Kidney Stones and Urolithiasis Treatments
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PMID: 11675411
DOI: 10.1681/asn.v12112348

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Related research

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Familial Juvenile Hyperuricemic Nephropathy and Autosomal Dominant Medullary Cystic Kidney Disease Type 2PMID 11675411Read ↗

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UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.Semantic proximity Read ↗

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The Uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect.Semantic proximity Read ↗

Chronic kidney disease in an adolescent with hyperuricemia: familial juvenile hyperuricemic nephropathy.Semantic proximity Read ↗

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