双胎之一是KCNJ1基因纯合突变引起的Bartter综合征1例报告

One twin is Bartter syndrome caused by homozygous mutation of KCNJl gene:A case report

目的 探讨1例巴特综合征Ⅱ型(BSⅡ)的临床特点,并明确其诊断及预防的重要性。方法 根据患儿临床表现、实验室检查(血钠、血钾、血肾素、醛固酮水平),进行遗传代谢性血筛及尿筛,并完善全外显子组测序。结果 本文报道1例BSⅡ型的患者,为双胎之一,患儿表现为严重高钾、低钠血症,多尿、生长发育迟缓等表现,其同胞哥哥无相关症状。Trio-全外显子组测序结果示患儿KCNJ1基因存在纯合致病变异(NM_153766.3:c.600C>G,p.Ser200-Arg),变异分别来源于父母,同胞哥哥为杂合子。该变异位点Sanger测序与全外显子组测序结果一致。结论 我们期望通过该患者的临床表现特点、结合其诊治经过等临床资料及遗传分析,以期为认识及诊治该病提供经验。

Objective To investigate the clinical characteristics,diagnosis and treatment process and follow-up of a case of Bartter syndrome type II(BS II).Methods According to the clinical manifestations and laboratory examination(se-rum sodium,serum potassium,serum renin,aldosterone levels),genetic metabolic blood screening and urine screening were performed,and genetic detection was improved.Results This paper reports a case of BS-II type patient,one of the twins,the child presented with severe hyperkalemia,hyponatremia,polyuria,growth delay and other manifestations,the sibling brother had no related symptoms.Trio-whole exome test results showed homozygous pathogenic variation in KCNJI gene(NM_153761.3:c.600C>G,p.Ser200Arg),which was derived from both parents and heterozygote in the elder brother.The results of Sanger sequencing of the mutation site were consistent with those of whole external sequencing.Conclusion We hope to provide experience for the diagnosis and treatment of the disease through the clinical characteristics of the patient,combined with the clinical data and genetic analysis.