Русский
A complicated case of calcium urolithiasis in a carrier of SLC7A9 gene mutation responsible for cystinuria
DOI: https://dx.doi.org/10.18565/urology.2020.6.126-130
M.M. Litvinova, T.V. Filippova, K.F. Khafizov, D.V. Svetlichnaya, D.A. Ahmedzyanova, V.I. Rudenko, Z.K. Gadzhieva, M.V. Shumikhina
1) I.M. Sechenov First Moscow State Medical University of Ministry of Public Health of the Russian Federation (Sechenov University), Moscow, Russia; 2) The Loginov Moscow Clinical Scientific Center of Moscow Health Department, Moscow, Russia; 3) Federal State Budget Institution “Center of Strategic Planning” of the Ministry of Public Health of the Russian Federation, Moscow, Russia; 4) Moscow Regional Research and Clinical Institute (MONIKI), Moscow, Russia; 5) N.F. Filatov Children’s City Hospital of Moscow Healthcare Ministry, Moscow, Russia
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 recessive form of cystinuria type B. Because of the uroliths calcium composition the patient was also genotyped for SNPs in 15 genes involved in calcium metabolism. Polymorphisms associated with increased risk of calcium urolithiasis were found in 8 of 15 tested genes. The findings could explain clinical features of the patient.
Keywords: kidney stone disease, urolithiasis, calcium stones, cystinuria, genetic predisposition, hypercalciuria, polygenic forms, molecular genetic diagnostics, nephrocalcinosis, exome sequencing
About the Autors
Corresponding author: M.M. Litvinova – Ph.D, associate professor at the Department of Medical Genetics of I.M. Sechenov First Moscow State Medical University of Ministry of Public Health of Russian Federation (Sechenov University), Moscow, Russia; clinical geneticist at the Loginov Moscow Clinical Scientific Center of Moscow Health Department, Moscow, Russia; e-mail: mariya.litvinova@gmail.com
