[用于诊断单基因形式尿路结石病的分子和基因技术：临床病例]

[Molecular and genetic technologies for the diagnosis of monogenic forms of urinary stone disease: clinical cases].

作者信息

Litvinova M M, Filippova T V, Svetlichnaya D V, Morozov S L, Chugunov I S, Nuralieva S Z, Rudenko V I, Gadzhieva Z K, Subbotina T I, Shumikhina M V

机构信息

I.M. Sechenov First Moscow State Medical University of Ministry of Public Health of the Russian Federation, Moscow, Russia.

The Loginov Moscow Clinical Scientific Center of Moscow Health Department, Moscow, Russia.

出版信息

Urologiia. 2020 Jun(3):81-86.

PMID:32597591

Abstract

Kidney stone disease (KSD) is an actual problem of modern health care. By now, more than 80 monogenic forms of urolithiasis have been described. To diagnose such forms of KSD different molecular genetic technologies are used. In the current article 5 clinical cases of KSD among the patients aged 1-9 years old are presented. All of them underwent comprehensive instrumental, clinical, laboratory and molecular genetic investigations. DNA analysis was carried out by Next Generation Sequencing method (NGS) (target NGS-panels and Whole Exome Sequencing). In all cases the molecular genetic cause of the disease was found - idiopathic infantile hypercalcemia type 1 (gene CYP24A1 - 3 cases) and cystinuria (gene SLC7A9 - 2 case). Several unknown genetic variants were found in CYP24A1 (c.1379G>T, c.1156A>T, c.1286T>C) and SLC7A9 (c.920T>A). The importance of genetic testing and the role of genetic counseling for patients with KSD were shown.

摘要

肾结石病（KSD）是现代医疗保健中的一个实际问题。到目前为止，已描述了80多种单基因形式的尿石症。为了诊断此类KSD形式，使用了不同的分子遗传学技术。在本文中，介绍了1至9岁患者中的5例KSD临床病例。所有患者均接受了全面的仪器检查、临床检查、实验室检查和分子遗传学检查。通过下一代测序方法（NGS）（靶向NGS面板和全外显子测序）进行DNA分析。在所有病例中均发现了疾病的分子遗传学病因——1型特发性婴儿高钙血症（基因CYP24A1——3例）和胱氨酸尿症（基因SLC7A9——2例）。在CYP24A1（c.1379G>T、c.1156A>T、c.1286T>C）和SLC7A9（c.920T>A）中发现了几种未知的基因变异。显示了基因检测的重要性以及遗传咨询对KSD患者的作用。