【摘要】 目的探讨儿童Gitelman综合征的临床表现、病理、遗传学异常等。方法对儿童Gitelman综合征临床表现、肾活检明确病理、基因突变位点等进行检查。结果临床表现低血钾、低镁血症、碱中毒,高肾素血症、高醛固酮血症,基因检测发现存在SLC12A3基因的复杂杂合突变,即c.1964G>A,p.(Arg655His)联合8号外显子缺失突变、c.2543A>T,p.(Asp848Val)联合8号外显子缺失突变。结论儿童Gitclman综合征起病隐匿,复合杂合突变发生率高,基因诊断是确诊手段,儿科医生需要提高认识,以防漏诊误诊。更多还原

【Abstract】 Objective To study the clinical, pathological and genetical manifestation of Gitelman syndrome. Method The clinical data, renal biopsy pathology, genetic mutations of patients diagnosed with Gitelman syndrome were analyzed. Results All the patients showed hypopotassemia, hypomagnesemia, alkalipoisoning, hyperaldosteronemia,hyperreninemia. SLC12A3 complicated heterozygotic mutation was observed. Conclusions Gitelman syndrome in children is insidious and the incidence rate of SLC12A3 complicated heterozygotic mutation is high. Genetic tests can diagnose the disease. Pediatrician must recognize the manifestations to avoid misdiagnosis.更多还原