成年III型Bartter综合征1例并文献复习华中科技大学同济医学院附属.DOCVIP

　 成年 = 3 \* ROMAN III型Bartter综合征1例并文献复习 华中科技大学同济医学院附属同济医院 王小娟1，陈琛2，杜婷婷3， 张本平3，胡蜀红3*　 1.进修医师，现在武汉市八医院内科 2.心内科 3.内分泌科 *通讯作者， HYPERLINK mailto:hushuho2645@163.com。武汉　430030 hushuho2645@163.com，武汉，430030。 摘要 目的：总结 = 3 \* ROMAN III型Bartter综合征的临床特征以及诊断方法。方法：回顾性分析1例长期不明原因低钾血症患者的临床表现、生化检查和基因检测结果。结果：患者，女，41岁，乏力、低钾血症2年，无服用利尿剂和肾损害药物以及缓泻剂病史，血压正常。生化检查有显著低钾血症，血镁正常，尿钙正常。血气分析示代谢性碱中毒。血浆肾素活性增高。肾脏B超无钙化等异常，临床疑诊先天性失盐性肾小管病。PCR检测远曲小管上皮管腔侧钠氯离子同向转运蛋白（NCCT）基因SLC12A3全部编码区26个外显子无突变，而髓袢升支粗端和远曲小管上皮基底膜侧氯离子通道蛋白基因CLCNKB第12号外显子c.1093delC杂合突变，致编码氨基酸p.His365Thr fs 368X移码突变，这是CLCNKB基因一个新的突变类型。此例最后诊断为 = 3 \* ROMAN III型Bartter综合征。结论：对于低钾血症伴代谢性碱中毒和血压正常而无特殊用药史的成年患者，诊断应考虑先天性失盐性肾小管疾病包括Gitelman和 = 3 \* ROMAN III型Bartter综合征，同时检测SLC12A3和CLCNKB基因可明确诊断。 关键词：低钾血症，失盐性肾小管病，Gitelman综合征，Bartter综合征，SLC12A3基因，CLCNKB基因 One case of Bartter syndrome type = 3 \* ROMAN III and literature review Tongji Hostiptal Affliated to Tongji Medical College,Huazhong University of Science and Technology, Wuhan,430030, China, WANG Xiao-juan1, CHEN Chen2, DU Ting-ting3, ZHANG Ben-ping3, HU Shu-hong3* 1:Visiting physician from Internal Medicine Department of Wuan 8th. Hospital 2:Department of Cardiovascular Disease 3:Department of Endocrinology and Metabolism Abstract Objective: To summarize the clinical and biochemical characteristics as well as diagnostic methods of Bartter syndrome type = 3 \* ROMAN III caused by a novel CLCNKB gene mutation. Methodes: Clinical manifestations, biochemical and genetic results of a patient with persistent hypokelemia of unknown reason was retrospectively analyzed.Results: The 41years old female patient presented hypokalemia for 2 years without history of administration of antidiuretics and renal injured medication as well as laxatives. She presented with fatigue and limb numb, without tetany and hypertension. Biochemical investigation demonstrated notably hypokalemia,eucalcemia and eumagnesemia, meanwhile the 24 hours urine excretions of potassium,calcium and magnesium was in normal re