Gitelman syndrome: novel mutation and long-term follow-up

被引：11
|
作者：
Sinha, Aditi [1 ]
Lnenicka, Petr [2 ,3 ]
Basu, Biswanath [1 ]
Gulati, Ashima [1 ]
Hari, Pankaj [1 ]
Bagga, Arvind [1 ]
机构：
[1] All India Inst Med Sci, Div Pediat Nephrol, Dept Pediat, New Delhi 110029, India
[2] Charles Univ Prague, Fac Med 1, Inst Biol & Med Genet, Prague, Czech Republic
[3] Gen Teaching Hosp, Prague, Czech Republic
来源：
CLINICAL AND EXPERIMENTAL NEPHROLOGY | 2012年 / 16卷 / 02期
关键词：
Hypokalemia; Hypomagnesemia; SLC12A3; gene; NA-CL COTRANSPORTER;
D O I：
10.1007/s10157-011-0542-x
中图分类号：
R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];
学科分类号：
1002 ; 100201 ;
摘要：
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.
引用
收藏
页码：306 / 309
页数：4
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