儿童Gitelman综合征两例并文献复习

Gitelman syndrome in children: report of two cases and literature review

目的总结儿童Gitelman综合征的临床特征和诊治要点。方法分析2例Gitelman综合征患儿的临床表现、实验室检查和基因检测结果,并以"Gitelman综合征"或"Gitelman syndrome"为检索词在中国期刊全文数据库(CNKI)、万方数据知识服务平台及Pub Med收集并分析相关文献。结果 2例患儿均以"肢体乏力"为主诉入院,实验室检查均提示低钾血症、代谢性碱中毒、低尿钙症、高肾素-醛固酮血症和血压偏低,血镁处于正常低限,SLC12A3基因检测均为复合杂合突变,经对症治疗后症状消失,血钾可维持在接近正常低限。检索文献,儿童Gitelman综合征的病例报道相对较少,且患儿的临床表现异质性大,近年来,不论国内还是国外,学者们对Gitelman综合征基因诊断方面均有较深入的研究。结论儿童Gitelman综合征主要表现为低钾血症、代谢性碱中毒、低尿钙症、血压偏低和继发性高肾素-醛固酮血症等,其临床表现异质性大,SLC12A3基因突变检测有助于确诊,应结合患儿的临床表现作综合分析,治疗方法主要是对症治疗。

Objective To summarize the clinical characteristics and diagnosis of Gitelman syndrome in children.Methods Clinical manifestations, laboratory and gene test results of two children diagnosed with Gitelman syndrome were analyzed. Literature review was performed using the keywords of Gitelman syndrome in both English and Chinese from the CNKI, Wanfang data and PubMed. Results Both two affected children were admitted due to the chief complaint of limb weakness. Laboratory examination prompted hypokalemia, metabolic alkalosis, hypocalciuria, hyperreninemia-hyperaldosteronism and low blood pressure. The serum level of magnesium was within the normal lower limit. Both patients were detected with heterozygous mutation of SLC12A3 gene. Relevant symptoms were healed after symptomatic treatment. The serum level of potassium was maintained close to normal lower limit. Pediatric Gitelman syndrome has been relatively rarely reported. The clinical manifestations significantly vary among affected children. The gene diagnosis of Gitelman syndrome has been intensively investigated at home and abroad. Conclusions Children diagnosed with Gitelman syndrome are mainly characterized with hypokalemia, metabolic alkalosis, hypocalciuria, low blood pressure and secondary hyperreninemia-hyperaldosteronism, etc. The clinical manifestations considerably differ among individuals. Detection of SLC12A3 gene mutation combined with clinical manifestations contributes to confirm the diagnosis. Symptomatic treatment is mainly employed for Gitelman syndrome.