La cystinurie-lysinurie, progress recents

Translated title of the contribution: Recent data on cystinuria

G. Rizzoni, L. Dello Strologo, P. Gasparini, L. Zelante, L. Bisceglia, V. Nunes, M. Palacin

Research output: Contribution to journalArticle

Abstract

Cystinuria is characterized by defective reabsorption of four dibasic amino-acids, cystine, arginine, ornithine, and lysine by the proximal renal tubules and enterocytes. It contributes about 1-2% of renal lithiases overall and 6-8% of renal lithiases in pediatric patients. Three types of cystinuria are classically differentiated, based on urinary excretion of the four amino- acids in heterozygotes and on their intestinal absorption in homozygotes. The rBAT gene on chromosome 2 has been shown to be responsible for the transport of dibasic and neutral amino-acids. Positive linkage has also been demonstrated between cystinuria and three markers on the short arm of chromosome 2. Mutations of the rBAT gene have been demonstrated only in Type I cystinuria, indicating that cystinuria is genetically heterogeneous. A study of seven families is reported. Two families had two affected siblings each. All 14 patients were heterozygous for the disease. The cystinuria was I/I in four families, I/II in one family, and III/III in two families. Four different mutations were found. All occurred in patients with type I disease. To date, there is no evidence that the severity of cystinuria is correlated with the type of mutation.

Original languageFrench
Pages (from-to)688-691
Number of pages4
JournalAnnales de Pediatrie
Volume44
Issue number10
Publication statusPublished - 1997

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Keywords

  • Cystinuria
  • Gene mutations
  • Lithiasis

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Rizzoni, G., Dello Strologo, L., Gasparini, P., Zelante, L., Bisceglia, L., Nunes, V., & Palacin, M. (1997). La cystinurie-lysinurie, progress recents. Annales de Pediatrie, 44(10), 688-691.