Characterization of carrier females and affected males with X-linked recessive nephrolithiasis.

Journal article

X-linked recessive nephrolithiasis (XRN) was described in a large kindred in which nephrolithiasis; proximal tubular dysfunction, proteinuria, nephrocalcinosis, and renal failure occur only in males. Carrier females are asymptomatic, but formal studies of them have not been done. The gene for XRN has been mapped to the pericentromeric region of the X chromosome, close to the loci for several eye disease genes. We studied six affected males, 13 carrier females, and 25 normal members of this fa...

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Authors: Reinhart, S; Norden, A; Lapsley, M; Thakker, R; Pang, J

• Publication status: Published
• Journal: Journal of the American Society of Nephrology : JASN
• Volume: 5
• Issue: 7
• Pages: 1451-1461
• Publication date: 1995-01-01
• EISSN: 1533-3450
• ISSN: 1046-6673
• Language: English
• Keywords: Kidney Calculi; Humans; Eye; Carrier State; Creatinine; Middle Aged; Aged; Kidney Tubules; Female; Proteinuria; Male; X Chromosome; Genetic Linkage; Child, Preschool; Adolescent; Adult; Genes, Recessive; Child; Calcium; Phenotype