Gitelman syndrome: novel mutation and long-term follow-up
Gitelman syndrome: novel mutation and long-term follow-up
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DOI：
10.1007/s10157-011-0542-x
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发表时间：
2012-04-01
影响因子：
2.3
通讯作者：
Bagga, Arvind
中科院分区：
文献类型：
--
作者：
Sinha, Aditi;Lnenicka, Petr;Bagga, Arvind
我们报告一个Gitelman综合征的病例，从2.5岁开始表现为疲劳、感觉异常、四肢和颈部肌肉无力。检查显示低钾血症和低镁血症伴尿镁消耗。遗传分析显示在SLC12 A3基因中存在新的纯合突变（c.2879_2883+9ins14bp，瓦尔960 Glu fsx 12）。钾和镁补充剂和螺内酯的管理导致症状的显着改善。在11年的随访中，患者表现出令人满意的生长和身体发育。
We report a case of Gitelman syndrome presenting with fatigue, paresthesias, weakness of limbs and neck muscles since 2.5 years of age. Investigations showed hypokalemia and hypomagnesemia with urinary magnesium wasting. Genetic analysis revealed the presence of a novel homozygous mutation in the SLC12A3 gene (c.2879_2883+9ins14bp, p.Val 960 Glu fsx12). Management with potassium and magnesium supplements and spironolactone resulted in a significant improvement in symptoms. Over a follow-up of 11 years, the patient showed satisfactory growth and physical development.