Article
[A complicated case of calcium urolithiasis in a carrier of SLC7A9 gene mutation responsible for cystinuria].
Urologiia (Moscow, Russia : 1999) - 1 Dec 2020
Litvinova M M, Filippova T V, Khafizov K F, Svetlichnaya D V, Ahmedzyanova D A, Rudenko V I, Gadzhieva Z K, Shumikhina M V
Abstract excerpt
The article describes a clinical case of kidney stone disease (KSD) in a child of 4 y.o. with calcium urolithiasis. Analysis of chemical content of the kidney stones revealed their calcium-oxalate composition. According to the results of clinical exome sequencing the patient found to be a heterozygous carrier of a pathogenic variant c.695A>G (p.Tyr232Cys) in the gene SLC7A9, attributable for an autosomal...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.