Lithiase cystinique [Cysteine lithiasis].
Détails
ID Serval
serval:BIB_4F9024E8BA4D
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Lithiase cystinique [Cysteine lithiasis].
Périodique
Revue Médicale de la Suisse Romande
ISSN
0035-3655 (Print)
ISSN-L
0035-3655
Statut éditorial
Publié
Date de publication
2004
Volume
124
Numéro
8
Pages
471-475
Langue
français
Notes
Publication types: Case Reports ; English Abstract ; Journal Article ; Review
Publication Status: ppublish
Publication Status: ppublish
Résumé
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.
Mots-clé
Adult, Cysteine/analysis, Humans, Male, Risk Factors, Urinary Bladder Calculi/chemistry, Urinary Bladder Calculi/diagnosis
Pubmed
Création de la notice
24/01/2008 16:09
Dernière modification de la notice
20/08/2019 14:05