A Pedigree with c.179 Cytosine to Threonine Missense Mutation of SLC12A3 Gene Presenting Gitelman's Syndrome.

Q3 Medicine
Electrolyte and Blood Pressure Pub Date : 2016-06-01 Epub Date: 2016-06-30 DOI:10.5049/EBP.2016.14.1.16
Yaerim Kim, Seong Sik Kang, Woo Yeong Park, Kyubok Jin, Dae-Kwang Kim, Seungyeup Han
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引用次数: 2

Abstract

A 42-year-old man came to the hospital presenting chest discomfort and general weakness. He had come to the hospital with the same symptoms 3 months ago and 12 years prior. His laboratory test showed hypokalemia, hypomagnesemia and hypocalciuria. The arterial blood gas analysis showed hypochloremic metabolic alkalosis. He had an ultrasonography guided renal biopsy, the result was normal at light microscopy and immunofluorescence microscopy. However, a special stain for Na-Cl cotransporter was weakly expressed compared with the control. The patient and his family underwent genetic sequencing about the SLC12A3 gene. He had a homozygous mutation in the 179(th) nucleotide of Exon 1 on the SLC12A3 gene (p.Thr60Met) and his parents and sisters were diagnosed as carrier state of Gitelman's syndrome (GS). GS is an inherited tubular disorder which presents mild hypokalemia, hypomagnesemia and hypocalciuria. Since the symptoms and laboratory results are not severe, it can go unnoticed by physicians. Herein we present a family with GS, diagnosed by genetic sequencing.

Abstract Image

Abstract Image

Abstract Image

带有c.179的血统SLC12A3基因胞嘧啶到苏氨酸错义突变表现为吉特曼综合征。
一名42岁男子因胸部不适和全身无力来到医院。他曾在3个月前和12年前以同样的症状来过医院。他的实验室检查显示低钾、低镁和低钙尿。动脉血气分析显示低氯血症代谢性碱中毒。超声引导下肾活检,光镜及免疫荧光镜检结果正常。然而,Na-Cl共转运体的特殊染色与对照相比表达较弱。对患者及其家属进行SLC12A3基因测序。SLC12A3基因外显子1第179(th)个核苷酸纯合突变(p.Thr60Met),父母姐妹均诊断为Gitelman综合征(GS)携带者。GS是一种遗传性小管性疾病,表现为轻度低钾血症、低镁血症和低钙尿症。由于症状和实验室结果并不严重,医生可能会忽视它。在这里,我们提出一个家庭与GS,诊断基因测序。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Electrolyte and Blood Pressure
Electrolyte and Blood Pressure Medicine-Internal Medicine
CiteScore
2.10
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