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

SC Reinhart, AG Norden, M Lapsley… - Journal of the …, 1995 - journals.lww.com
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 family including 7 females whose genetic …