Two mutations in the thiazide-sensitive NaCl co-transporter gene in a Romanian Gitelman syndrome patient: case report.
Two mutations in the thiazide-sensitive NaCl co-transporter gene in a Romanian Gitelman syndrome patient: case report.
复制标题
罗马尼亚吉特曼综合症患者中对噻嗪类敏感的NaCl共转运蛋白基因的两个突变：病例报告。
DOI：
10.2147/tcrm.s150483
复制
发表时间：
2018
影响因子：
2.8
通讯作者：
Mozos I
中科院分区：
文献类型：
--
作者：
Gug C;Mihaescu A;Mozos I
Gitelman综合征（GS）被认为是最常见的肾小管疾病，我们报告了罗马尼亚第一例在分子水平上确诊的GS患者，并根据基因检测进行诊断。本文报告一名27岁女性，因严重低钾血症、轻微低镁血症、低钙血症、低钙尿、代谢性碱中毒、高肾素血症、低血压、肢体肌肉无力、明显疲劳和心悸而住院。家族史为常染色体隐性遗传的近亲家族，5代2例。新一代测序技术在SLC12A3基因中检测到两个不同的纯合突变c.1805_1806delAT和c.2660+1G>A，该基因编码噻嗪类药物敏感的NaCl共转运体，经Sanger法证实。临床医生应意识到GS的存在，妥善管理病情，并考虑疾病复发给下一代的风险。
Gitelman syndrome (GS) is considered as the most common renal tubular disorder, and we report the first Romanian patient with GS confirmed at molecular level and diagnosed according to genetic testing. This paper describes the case of a 27-year-old woman admitted with severe hypokalemia, slight hypomagnesemia, hypocalcemia, hypocalciuria, metabolic alkalosis, hyperreninemia, low blood pressure, limb muscle weakness, marked fatigue and palpitations. Family history revealed a consanguineous family with autosomal-recessive transmission of GS with two cases over five generations. Next-generation sequencing technology detected two different homozygous mutations c.1805_1806delAT and c.2660+1G>A in the SLC12A3 gene, which encodes the thiazide-sensitive NaCl co-transporter, confirmed by the Sanger method. Clinicians should be aware of the existence of GS, manage the condition properly and consider the risk of disease recurrence to the next generations.
DOI：
10.1093/ndtplus/sfr094
发表时间：
2011-12
期刊：
NDT plus
影响因子：
--
作者：
de La Faille R;Vallet M;Venisse A;Nau V;Collet-Gaudillat C;Houillier P;Jeunemaitre X;Vargas-Poussou R
通讯作者：
Vargas-Poussou R