SLC12A3基因突变Gitelman综合征并身材矮小1例临床分析

doi:10.3969/j.issn.1004-583X.2019.10.014

临床荟萃

SLC12A3基因突变Gitelman综合征并身材矮小1例临床分析

1.西安医学院，陕西西安 710021；2.西安市儿童医院免疫科，陕西西安 710003；3.陕西省儿科疾病研究所，陕西西安 710003

出版日期:2019-10-20 发布日期:2019-12-09
通讯作者: 李小青，Email：xa_lxq@163.com

Clinical analysis of Gitelman syndrome and short stature with SLC12A3 mutation in one case

1.Xi’an Medical University, Xi 'an 710021, China； 2.Department of Immunology,
Xi 'an Children's Hospital, Xi 'an 710003, China； 3.Shaanxi Provincial Institute of
Paediatric Diseases, Xi 'an 710003, China

Online:2019-10-20 Published:2019-12-09
Contact: Corresponding author: Li Xiaoqing, Email:xa_lxq@163.com

摘要/Abstract

摘要： Gitelman综合征（Gitelman syndrome，GS）又被称为家族性低钾低镁血症，是一种以低钾低氯性碱中毒、低镁血症、低尿钙、高肾素活性为特征的常染色体隐性遗传的失盐性肾小管疾病，血压可正常或偏低。大多数患者经过“食补+药物”替代治疗有良好的预后，早期发现并予相应治疗，可显著提高患者生活质量。现将西安市儿童医院收治的1例Gitelman综合征并身材矮小患者临床资料及诊疗过程，结合相关文献学习，做如下报道。

关键词: Gitelman综合征, 低血钾, 矮小症, SLC12A3基因

Abstract: Gitelman syndrome (GS), also known as familial hypokalemic hypomagnesemia, is an autosomal recessive inherited and saltlosing renal tubular disease characterized by hypokalemic and hypochloremic alkalosis, hypomagnesemia, hypocalciuria and high renin activity. And GS patients may have normal or low blood pressure.Most patients have good prognosis after “food supplement+drug” replacement therapy. Early detection and corresponding treatment can significantly improve the life quality of patients. Together with other related literature, this paper reports the clinical data, diagnosis and treatment of a patient with Gitelman syndrome and short stature admitted to Xi 'an Children's Hospital.

Key words: Gitelman syndrome, hypokalemia, short stature, SLC12A3 gene

许金腾1，马凯2，李小青2，杨颖3. SLC12A3基因突变Gitelman综合征并身材矮小1例临床分析[J]. 临床荟萃, doi: 10.3969/j.issn.1004-583X.2019.10.014.

Xu Jinteng1, Ma Kai2, Li Xiaoqing2, Yang Ying3. Clinical analysis of Gitelman syndrome and short stature with SLC12A3 mutation in one case[J]. Clinical Focus, doi: 10.3969/j.issn.1004-583X.2019.10.014.

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链接本文: https://huicui.hebmu.edu.cn/CN/10.3969/j.issn.1004-583X.2019.10.014

https://huicui.hebmu.edu.cn/CN/Y2019/V34/I10/933

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SLC12A3基因突变Gitelman综合征并身材矮小1例临床分析

Clinical analysis of Gitelman syndrome and short stature with SLC12A3 mutation in one case

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