【摘要】 目的探讨儿童低钾性肾小管疾病的临床特点以及基因诊断在该类疾病中的应用价值。方法回顾性分析2010年1月至2016年1月上海市儿童医院收治的38例低钾性肾小管疾病患儿的临床资料及基因诊断结果。结果 38例患儿包括肾小管酸中毒Ⅰ型17例,肾小管酸中毒Ⅱ型1例,Bartter综合征11例,Gitelman综合征5例,范可尼综合征4例。临床特点:低钾性肾小管疾病以肌无力、恶心呕吐、多饮多尿、生长发育迟缓为主要的临床症状。在肾脏损害方面,1例范可尼综合征患儿进展至慢性肾脏病(CKD)3期,其余患儿肾功能正常。Bartter综合征、Gitelman综合征和范可尼综合征分别有1例、1例和3例患者出现肾小球性蛋白尿,1例范可尼综合征出现肾小管性蛋白尿。患儿肾小球性和肾小管性尿微量蛋白普遍升高。基因诊断:1例肾小管酸中毒Ⅰ型为ATP6V0A4复合杂合突变,3例Gitelman综合征系SLC12A3复合杂合突变。结论低钾性肾小管疾病的临床表现多样化,以肌无力、恶心呕吐、多饮多尿、生长发育迟缓为主要的临床症状;低钾性肾小管疾病患儿普遍同时存在肾小球和肾小管损伤;基因诊断有助于低钾性肾小管疾病的诊治及遗传咨询。更多还原

【Abstract】 Objective To analyze the clinical features and the results of genetic diagnosis in children with hypokalemic renal tubular diseases. Methods The clinical data of 38 patients with hypokalemic renal tubular diseases were analyzed retrospectively,who were treated in Children’s Hospital Affiliated to Shanghai Jiao Tong University from Jan.2010 to Jan. 2016. Results Totally 38 patients with hypokalemic renal tubular diseases were enrolled in this study.There were 18 cases of renal tubular acidosis(RTA)including 17 cases of typeⅠRTA and 1 case of typeⅡ RTA. There were 11 cases of Bartter syndrome,5 cases of Gitelman syndrome and 4 cases of Fanconi syndrome. The common clinical manifestations of hypokalemic renal tubular diseases included myasthenia,nausea,vomiting,polydipsia,polyurine and growth retardation. One case of Fanconi syndrome progressed to chronic Kidney disease(phase Ⅲ),while the other children had normal renal function. Glomerular proteinuria was found in 1,1 and 3 children with Bartter syndrome,Gitelman syndrome and Fanconi syndrome,respectively. Additionally,1 case with Fanconi syndrome has tubular proteinuria. However,urinary trace proteins associated with glomerular and tubular injury commonly elevated in these hypokalemic renal tubular diseases. Genetic analysis showed a new potential heterozygous mutations of ATPV0 A4 in typeⅠRTA and three heterozygous mutations of SLC12 A3 in Gitelman syndrome. Conclusion The clinical symptoms vary in patients and are featured mainly by myasthenia,nausea,vomiting,polydipsia,polyurine and growth retardation.Glomerular and tubular injuries are commonly found in hypokalemic renal tubular diseases. Moreover,genetic diagnosismay be helpful in diagnosis,treatment and genetic counseling.更多还原