摘要
目的探讨先天性失氯性腹泻的临床特征及其基因变异特点.方法回顾分析1例先天性失氯性腹泻患儿的临床资料及基因分析结果.结果出生15天的女性患儿因出生后皮肤巩膜黄染而入院,入院后患儿偶有腹泻,伴反复腹胀;多次血气、血电解质分析示低钾、低钠、低氯血症及代谢性碱中毒;临床诊断为Bartter综合征,予氯化钠及氯化钾等治疗,血气及电解质基本稳定.基因检测发现患儿SLC26A3基因分别来自母亲和父亲的c.269_270 dupAA、c.735+4_735+7del复合杂合变异,其中c.735+4_735+7del为新的变异,尚未有文献报道.结论确诊临床罕见的先天性失氯性腹泻.
Objective To explore the clinical characteristics and genetic variation of congenital chloride diarrhea(CCD).Method The clinical data and genetic analysis of CCD in a child were retrospectively analyzed.Results A 15-dayold girl was admitted to the hospital due to yellow sclera and skin after birth.After admission,the patient had occasional diarrhea and recurrent abdominal distension.Repeated blood gas and electrolyte analysis suggested hypokalemia,hyponatremia,hypochloremia and metabolic alkalosis.Thus,Bartter syndrome was diagnosed clinically and after treated with sodium chloride and potassium chloride,the results of blood gas and electrolyte analysis were basically stable.The genetic test found that the child’s SLC26A3 gene had a compound heterozygous variation,c.269_270 dupAA and c.735+4_735+7del that were from her mother and father respectively.The c.735+4_735+7del is a new mutation and has not been reported in the literature.Conclusion A rare case of CCD was diagnosed.
作者
林丽芳
袁天明
LIN Lifang;YUAN Tianming(Department of Neonatology,Children's Hospital of Zhejiang University School of Medicine,Hangzhou 310052,Zhejiang,China)
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2019年第12期913-915,共3页
Journal of Clinical Pediatrics
