Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease?

J Am Soc Nephrol. 2001 Nov;12(11):2348-2357. doi: 10.1681/ASN.V12112348.

Abstract

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 responsible for a variant of autosomal dominant medullary cystic kidney disease observed in an Italian family. In a large Belgian family with FJHN, a tight linkage between the disorder and the marker D16S3060, located within the MCKD2 locus on chromosome 16p12 (maximal two-point logarithmic odds score of 3.74 at a recombination fraction of theta = 0), was observed in this study. The candidate region was further narrowed to a 1.3-Mb interval between D16S501 and D16S3036. Together with the striking clinical and pathologic resemblance between previously reported medullary cystic kidney disease type 2 and FJHN occurring in the Belgian family (including the presence of medullary cysts), this study suggests that these two disorders are facets of the same disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Chromosome Mapping
  • Chromosomes, Human, Pair 16 / genetics
  • Cysts / genetics*
  • Cysts / pathology
  • Female
  • Genetic Linkage
  • Haplotypes
  • Humans
  • Kidney / pathology
  • Kidney Diseases / classification
  • Kidney Diseases / genetics*
  • Kidney Diseases / pathology
  • Kidney Diseases / urine*
  • Kidney Medulla* / pathology
  • Male
  • Pedigree
  • Uric Acid / blood*

Substances

  • Uric Acid