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Expert Consensus for the Diagnosis and Treatment of Bartter Syndrome in China(2023)
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摘要: Bartter综合征是一种罕见的遗传性失盐性肾病，以继发性醛固酮增多症伴低血钾、低氯性代谢性碱中毒、血压正常或偏低为主要临床特点。可出现早产、低血容量、室性心律失常、横纹肌溶解、肾功能衰竭、生长发育迟缓、感音神经性耳聋等临床情况，疾病危害大。近年来，Bartter综合征相关研究取得了长足进步。中华医学会罕见病分会、中国研究型医院学会罕见病分会、中国罕见病联盟、北京罕见病诊疗与保障学会联合相关领域专家全面复习了Bartter综合征相关文献，基于最新循证医学证据，在Bartter综合征的临床表现与分型、诊断、治疗、并发症管理方面达成共识，为临床规范化诊疗提供了依据。
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关键词:
- Bartter综合征 /
- 诊断 /
- 治疗 /
- 共识 /
- 中国
Abstract: Bartter syndrome (BS) is a rare inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism with hypokalemia and hypochloremic metabolic alkalosis, and normal or low blood pressure. In severe cases, preterm delivery, hypovolemia, ventricular arrhythmia, rhabdomyolysis, renal failure, growth failure and sensorineural deafness may occur. In recent years, research on BS has made significant progress. The Bartter Syndrome Consensus Working Group has performed a systematic literature review, and based on evidence-based medicine, summarized aspects related to BS, including clinical manifestations and classification, diagnosis, treatment strategies, and management of complications. This consensus provides an important reference for the better diagnosis and treatment of BS.-
Key words:
- Bartter syndrome /
- diagnosis /
- treatment /
- consensus /
- China
作者贡献：本专家共识由中华医学会罕见病分会、中国研究型医院学会罕见病分会、中国罕见病联盟、北京罕见病诊疗与保障学会发起，陈丽萌、陈朝英、张抒扬牵头成立共识制订工作组，编写组成员共同起草了共识初稿，专家组成员共同进行讨论和投票。利益冲突：所有参与本共识制订的人员均声明不存在利益冲突专家组成员 (按姓氏首字母排序)：陈朝英(首都儿科研究所附属儿童医院肾脏内科)，陈丽萌(北京协和医院肾内科)，陈崴(中山大学附属第一医院肾内科)，陈晓巍(北京协和医院耳鼻喉科)，程虹(首都医科大学附属北京安贞医院肾内科)，程庆砾(中国人民解放军总医院肾脏病科)，高劲松(北京协和医院妇产科)，韩飞(浙江大学医学院附属第一医院肾脏病中心)，李月红(北京清华长庚医院肾内科)，刘晓清(北京协和医院感染内科临床流行病学教研室)，刘小荣(首都医科大学附属北京儿童医院肾病科)，刘雅萍(中国医学科学院基础医学研究所医学遗传学系)，马坤岭(浙江大学医学院附属第二医院肾脏内科)，毛建华(浙江大学医学院附属儿童医院肾脏内科), 毛永辉(北京医院肾脏内科)，梅长林(上海长征医院肾脏病科)，聂敏(北京协和医院内分泌科)，童安莉(北京协和医院内分泌科)，王墨(重庆医科大学附属儿童医院肾脏内科)，王悦(北京大学第三医院肾内科)，魏珉(北京协和医院儿科)，许辉(中南大学湘雅医院肾脏内科)，杨琼琼(中山大学孙逸仙纪念医院肾内科)，姚丽(中国医科大学附属第一医院肾脏内科)，易杰(北京协和医院麻醉科)，张爱华(南京医科大学附属儿童医院肾脏科)，张抒扬(北京协和医院心内科，疑难重症及罕见病国家重点实验室)，郑亚莉(宁夏回族自治区人民医院肾脏内科)，郑智华(中山大学附属第七医院肾脏病中心)执笔者：张磊(北京协和医院肾内科)，彭晓艳(首都儿科研究所附属儿童医院肾脏内科)，杨宏仙(首都儿科研究所附属儿童医院肾脏内科)，简珊(北京协和医院儿科)，樊晓红(北京协和医院肾内科)，蒋兰萍(中山大学附属第一医院肾内科)，董源(北京协和医院肾内科)，赵若环(北京协和医院肾内科)，吕宁(北京协和医院肾内科)，乐偲(北京协和医院肾内科)，涂娟(首都儿科研究所附属儿童医院肾脏内科)，陈朝英(首都儿科研究所附属儿童医院肾脏内科)，陈丽萌(北京协和医院肾内科) -
表 1 本共识证据等级的定义
证据等级 定义 1a 总结多项随机对照研究的荟萃分析 1b 至少有1项随机对照研究 2a 至少有1项设计良好的对照研究，但未随机分组 2b 至少有1项设计良好的其他类型准实验研究 3 设计良好的非实验性描述性研究，如比较研究、相关性研究、病例研究等 4 专家委员会的报告或观点，以及权威专家的临床经验 
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表 2 本共识推荐强度的定义
推荐强度 定义 证据等级 A(强) 有1项或多项高质量随机对照研究回答该临床问题 1a、1b B(中) 针对该问题，有设计良好的临床研究但未随机分组 2a、2b、3 C(弱) 专家委员会的报告或观点，以及权威专家的临床经验，提示本领域需进行高质量的临床研究 4
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表 3 BS分型及临床特点[5]
指标 分型 BS 1型 BS 2型 BS 3型 BS 4a型 BS 4b型 BS 5型 OMIM 601678 241200 607364 602522 613090 300971 致病基因 SLC12A1 KCNJ1 CLCNKB BSND CLCNKA+B MAGED2 遗传方式 AR AR AR AR DR XLR 基因产物 NKCC2 ROMK ClC-Kb Barttin ClC-Ka+b MAGE-D2 发病年龄 产前/新生儿 产前/新生儿 婴幼儿 产前/新生儿 产前/新生儿 产前/新生儿 羊水过多 ++ ++ ± ++ / ++~+++ 分娩孕周(周) 32(29~34) 33(31~35) 37(36~41) 31(28~35) / 29(21~37) 多尿 ++ ++ ± ++ ++ ++ 生长发育障碍 ++ ++ ± ++ ++ - 感音神经性耳聋 - - - + + - 高尿钙/肾钙质沉着 ++/++ ++/++ ± ± ± ± 低钾血症 + + ++ ++ ++ + 低氯血症 ± ± + + + ± 低镁血症 - - ± ± ± ± BS：Bartter综合征；OMIM：人类基因和遗传疾病数据库；AR：常染色体隐性遗传；DR：双基因隐性遗传；XLR：X连锁隐性遗传；NKCC2：钠钾氯协同转运蛋白；ROMK：肾外髓钾通道；ClC-Kb：氯离子电压门控通道Kb；Barttin：氯离子通道β亚单位；ClC-Ka+b：氯离子电压门控通道Ka和Kb；MAGE-D2：黑色素瘤相关抗原D2；++，+++：症状突出；+：存在该症状；±：轻度或存在变异；-：无该症状；/：缺乏相应资料
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表 4 BS低钾血症严重程度分级
指标 分级 1级 2级 3级 4级 血钾(mmol/L) 3.0~3.4 2.5~2.9 2.0~2.4，或强效替代治疗，或住院治疗 ＜2.0，或低钾伴轻瘫、肠梗阻，或危及生命的心律失常 BS：同表 3
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表 5 BS各亚型相关基因、蛋白的例数及占比(n=766)
BS分型 基因 染色体位点 蛋白 蛋白功能 n(%) 1型 SLC12A1 15q21.1 NKCC2 重吸收钠离子、钾离子和氯离子 124(16.2) 2型 KCNJ1 11q24.3 ROMK 小管上皮细胞内的钾离子回流至小管腔内 106(13.8) 3型 CLCNKB 1p36.13 ClC-Kb 负责基底膜侧氯离子的重吸收 454(59.3) 4a型 BSND 1p32.3 Barttin 是ClC-Ka和ClC-Kb氯离子通道的β亚单位 46(6.0) 4b型 CLCNKA+B 1p36.13 ClC-Ka+b 负责基底膜侧氯离子的重吸收 6(0.8) 5型 MAGED2 Xp11.21 MAGE-D2 辅助NKCC2和NCC表达于细胞膜上 30(3.9) NCC：钠氯协同转运蛋白; BS、NKCC2、ROMK、ClC-Kb、Barttin、ClC-Ka+b、MAGE-D2：同表 3
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