The latter findings were not observed in patients with FJHN without UMOD mutations. ![]() Consistent with this observation, urinary excretion of wild-type uromodulin was significantly decreased. There was a markedly increased expression of uromodulin in a cluster of tubule profiles, suggesting an accumulation of the protein in tubular cells. The consequences of UMOD mutations on uromodulin expression were investigated in urine samples and renal biopsies from nine patients in four families. A mutation in UMOD has been identified in 11 FJHN families (10 missense and one in-frame deletion)-10 of which are novel-clustering in the highly conserved exon 4. Mutations in UMOD were recently reported in nine families with FJHN/MCKD2 disease. UMOD, the gene encoding the Tamm-Horsfall/uromodulin protein, maps within the FJHN/MCKD2 critical region. A locus for FJHN was previously identified on chromosome 16p12 close to the MCKD2 locus, which is responsible for a variety of autosomal-dominant medullary cystic kidney disease (MCKD2). Familial juvenile hyperuricemic nephropathy (FJHN ) is an autosomal-dominant disorder characterized by abnormal tubular handling of urate and late development of chronic interstitial nephritis leading to progressive renal failure. Mounier 52, Tour Vesale 5220, B-1200, Brussels, Belgium. Karin Dahan, Center for Human Genetics, Universite Catholique de Louvain, Avenue E. *Universite Catholique de Louvain, Center for Human Genetics, Brussels, Belgium †Universite Catholique de Louvain, Division of Nephrology, Brussels, Belgium ‡Universite Catholique de Louvain, International Institute of Cellular and Molecular Pathology, HORM Unit, Brussels, Belgium §Hopital Princesse Paola, Department of Nephrology, Aye, Belgium ∥Hopital de Frejus, Department of Nephrology, Frejus, France ¶Hopital Bichat-Claude Bernard, Department of Nephrology, Paris, France #Hopital Georges Pompidou, Department of Nephrology, Paris, France **Hopital Necker, Department of Pediatric Nephrology, Paris, France ††Hopital Necker, Department of Nephrology and INSERM U507, Paris, France ‡‡Centre Hospitalier Regional, Department of Nephrology, Tours, France §§Hopital Edouard Herriot, Department of Pediatric Nephrology, Lyon, France ∥∥Universite Catholique de Louvain, Department of Pathology, Brussels, Belgium ¶¶Hopital Tenon, Department of Pathology, Paris, France and #Universite Paris V, Necker Hospital, INSERM U574, and Department of Genetics, Paris, FranceĬorrespondence to Dr.
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