Article
Characterization of carrier females and affected males with X-linked recessive nephrolithiasis.
Journal of the American Society of Nephrology : JASN - 1 Jan 1995
Reinhart S C, Norden A G, Lapsley M, Thakker R V, Pang J, Moses A M, Frymoyer P A, Favus M J, Hoepner J A, Scheinman S J
Abstract excerpt
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...
Topics
- Adolescent
- Adult
- Aged
- Calcium
- Carrier State
- Child
- Child, Preschool
- Creatinine
- Eye
- Female
- Genes, Recessive
- Genetic Linkage
- Humans
- Kidney Calculi
- Kidney Tubules
- Male
- Middle Aged
- Phenotype