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[Cysteine lithiasis].

Authors
  • Barbey, Frédéric
  • Cachat, François
  • Gauthier, Thierry
  • Meid, Florian
  • Jichlinski, Patrice
  • Daudons, Michel
Type
Published Article
Journal
Revue médicale de la Suisse romande
Publication Date
Aug 01, 2004
Volume
124
Issue
8
Pages
471–475
Identifiers
PMID: 15495470
Source
Medline
License
Unknown

Abstract

Cystinuria is a common inherited amino-aciduria resulting in abnormal urinary excretion of cystine and the dibasic aminoacids, lysine, arginine and ornithine. Formation of cystine kidney stones, recurrent infections and subsequent renal failure are the main complications of the disease. Recently, the gene SLC3A1 and SLC7A9, encoding the two subunits rBAT et b0,+AT of the proximal renal transporter complex, have been identified. In this article, we report the medical history of a 30-year-old patient and discuss the recent molecular progress, the clinical evolution, and the medical treatment of the cystinuria.

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