Xanthinurie héréditaire de type 1 : à propos de trois cas

Autor:	B. Ranchin, Pierre Cochat, F. Broly, M. Diss, N. Pottier
Rok vydání:	2015
Předmět:	Genetics Stone formation Diagnostic methods Xanthine Dehydrogenase Deficiency Biology medicine.disease Genetic analysis Enzyme assay Pediatrics Perinatology and Child Health medicine biology.protein Missense mutation Xanthinuria Gene
Zdroj:	Archives de Pédiatrie. 22:1288-1291
ISSN:	0929-693X
Popis:	Type 1 xanthinuria is a rare cause of urolithiasis due to xanthine dehydrogenase deficiency. Pediatric cases are exceptional. Through the genetic analysis of two cases, we discovered three mutations responsible for a loss of enzyme activity. The first one had a C.3536T>C missense mutation in the XDH gene and the other one was heterozygous for two mutations c.700+1G>T and c.31778_82delTCAT. We review the diagnostic methods, possible complications, and preventive measures for stone formation.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::21d18137558d5b15e9226c235ff19a61 https://doi.org/10.1016/j.arcped.2015.09.003 Zobrazit plný text záznamu Full Text from ScienceDirect