Article
[Molecular biology of cystinuria].
Fortschritte der Medizin. Originalien - 1 Jan 2001
Albers A, Wagner C A, Schmidt C, Lahme S, Bichler K H, Lang F, Zerres K, Eggermann T
Abstract excerpt
Cystine stones belong to the kidney stones diseases which are difficult to manage due to the high rate of recidivation and the necessary surgical procedures. Cystinuria is an autosomal recessive defect of the transport of cystine and the dibasic amino acids in the proximal kidney tube. Recently, two subunits of a renal cystine transporter have been identified. Mutations in these genes have been shown to lead to...
Topics
- Cystinuria
- Genotype
- Heterozygote
- Humans
- Kidney Calculi
- Lithotripsy
- Mutation
- Prognosis