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*
Center for Human Genetics, Catholic University of Louvain, Brussels,
Belgium
Department of Pathology, Catholic University of Louvain, Brussels,
Belgium
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Division of Nephrology, Catholic University of Louvain, Brussels,
Belgium
University Children's Hospital, Freiburg, Germany
Department of Nephrology, Princesse Paola Hospital, Aye,
Belgium.
Correspondence to Dr. Karin Dahan, Center for Human Genetics, Université Catholique de Louvain, Avenue E, Mounier 52, Tour Vésale 5220, B-1200 Brussels, Belgium. Phone: 0032-2-764-52-20; Fax: 0032-2-764-52-22; E-mail: Dahan{at}gmed.ucl.ac.be
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 
= 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.
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