儿童经典型巴特综合征1例及文献复习  

A case of typical Barter syndrome in a child and review of literature

作　　者：惠琼琼 师丛 陶仲宾[2] 叶新华[2] HUI Qiongqiong;SHI Cong;TAO Zhongbin;YE Xinhua(The First Clinical Medical College of Lanzhou University,Lanzhou,Gansu 730000,China;Department of Child Health Care,The First Hospital of Lanzhou University,Lanzhou,Gansu 730000,China)

机构地区：[1]兰州大学第一临床医学院,甘肃兰州730000 [2]兰州大学第一医院儿科,甘肃兰州730000

出　　处：《安徽医药》2023年第8期1665-1668,共4页Anhui Medical and Pharmaceutical Journal

摘　　要：目的通过对巴特综合征(BS)的诊治经过进一步提高临床医师对该病的认识。方法总结2021年1月8日兰州大学第一医院收治的1例经典型巴特综合征病人的诊疗方案。结果病儿主因咳嗽4d,发现电解质紊乱2d收住入院,入院前后均出现难以纠正的低钾血症、低钠血症、代谢性碱中毒,给予静脉补充电解质及纠正酸碱平衡1周,每天查血气分析基本未见改善,送检基因检测,临床经验性考虑巴特综合征,予以同时口服螺内酯及枸橼酸钾颗粒4d后,病儿内环境逐渐恢复,好转出院。出院后其基因检测结果:发现CLCNKB基因2-20外显子纯合缺失,其纯合性大片段缺失符合Ⅲ型Bartter综合征(父母为近亲婚配),属新发突变。结论基因检查虽能明确诊断,但结果检出时间相对较慢,可能会延误诊治,故积极提高临床医师对本疾病的认识并给予干预至关重要。Objective To further improve clinicians'understanding of Bartter syndrome through diagnosis and treatment of the disease.Methods The diagnosis and treatment plan of a patient with typical bartter syndrome admitted to the First Hospital of Lanzhou University on January 8,2021 were summarized.Results The patient was admitted to hospital after 4 days of cough and 2 days of electrolyte disturbance Cause cough 4 days,found that the electrolyte disorder hospitalize.There were difficult to correct the hypokalemia,hyponatremia,metabolic alkalosisbefore and after the hospital.Patient was given intravenous electrolyte supplementation and acid-base balance correction for 1 week,daily blood gas analysis showed no improvement.It was considered as bartter syndrome by genetic testing combined with clinical experience.After 4 days of simultaneous oral administration of spironolactone and potassium citrate particles,the child's internal environment gradually recovered and was discharged.After discharge,the genetic test results showed that homozygous deletion of exon 2-20 of CLCNKB gene was found,and the homozygous large fragment deletion was consistent with typeⅢBartter syndrome(parents were inbred),which was a new mutation.Conclusions Although genetic examination can make a definite diagnosis,the detection time is relatively slow,which may delay the diagnosis and treatment.Therefore,it is of great importance to actively improve the understanding and intervention of clinicians in this disease.

关 键 词：巴特综合征 低钾血症 代谢性碱中毒 基因诊断 

分 类 号：R725.9[医药卫生—儿科]