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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,Gitelman综合征中国专家组. Gitelman综合征诊疗中国专家共识(2021版)[J]. 协和医学杂志, 2021, 12(6): 902-912. doi: 10.12290/xhyxzz.2021-0555
引用本文: 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,Gitelman综合征中国专家组. Gitelman综合征诊疗中国专家共识(2021版)[J]. 协和医学杂志, 2021, 12(6): 902-912. doi: 10.12290/xhyxzz.2021-0555
Rare Diseases Society of Chinese Research Hospital Association, National Rare Diseases Committee, Beijing Rare Disease Diagnosis, Treatment and Protection Society, Gitelman Syndrome Consensus Working Group. Expert Consensus for the Diagnosis and Treatment of Gitelman Syndrome in China (2021)[J]. Medical Journal of Peking Union Medical College Hospital, 2021, 12(6): 902-912. doi: 10.12290/xhyxzz.2021-0555
Citation: Rare Diseases Society of Chinese Research Hospital Association, National Rare Diseases Committee, Beijing Rare Disease Diagnosis, Treatment and Protection Society, Gitelman Syndrome Consensus Working Group. Expert Consensus for the Diagnosis and Treatment of Gitelman Syndrome in China (2021)[J]. Medical Journal of Peking Union Medical College Hospital, 2021, 12(6): 902-912. doi: 10.12290/xhyxzz.2021-0555

Gitelman综合征诊疗中国专家共识(2021版)

doi: 10.12290/xhyxzz.2021-0555
基金项目: 

国家重点研发计划 2016YFC0901500

首都卫生发展科研专项 2020-2-4018

北京市自然科学基金-海淀原始创新联合基金资助 L202035

中国医学科学院医学与健康科技创新工程 2020-I2M-C & T-A-001

中国医学科学院医学与健康科技创新工程 2021-1-I2M-003

详细信息

    通信作者:陈丽萌1, 3, E-mail:chenlimeng@pumch.cn
    张抒扬2, 3, E-mail:shuyangzhang103@163.com.
    1. 中国医学科学院 北京协和医学院 北京协和医院 肾内科,北京 100730
    2. 中国医学科学院 北京协和医学院 北京协和医院 心内科,北京 100730
    3. 中国医学科学院 北京协和医学院 北京协和医院疑难重症及罕见病国家重点实验室,北京 100730

  • 中图分类号: R692.6; S856.1

Expert Consensus for the Diagnosis and Treatment of Gitelman Syndrome in China (2021)

Funds: 

National Key Research and Development Program of China 2016YFC0901500

Capital's Funds for Health Improvement and Research 2020-2-4018

Beijing Natural Science Foundation L202035

CAMS Innovation Fund for Medical Sciences 2020-I2M-C & T-A-001

CAMS Innovation Fund for Medical Sciences 2021-1-I2M-003

More Information

    Corresponding authors: CHEN Limeng1, 3, E-mail: chenlimeng@pumch.cn ZHANG Shuyang2, 3, E-mail: shuyangzhang103@163.com.
    1. Department of Nephrology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
    2. Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
    3. State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China

  • 摘要: 近年来,国内对Gitelman综合征的研究取得了长足进步,中国人群Gitelman综合征新的临床表型、疾病分型、改良功能试验、生物标志物和特殊人群管理经验相继在国内外期刊报道。基于最新循证医学证据,多学科领域专家在Gitelman综合征的临床表型、诊断、治疗、慢性并发症及合并症管理方面达成一致共识,为临床规范化诊疗提供了重要依据。
    作者贡献:张抒扬牵头制订共识框架,组建共识制订工作组,并审阅定稿;陈丽萌带领工作组复习文献,起草共识初稿,组织全国多学科专家讨论、修改初稿,并最后定稿;所有成员参与讨论并形成修订意见;魏珉、刘晓清、刘雅萍、夏维波、刘俊涛、李雪梅对共识内容进行修订和审校。
    利益冲突:共识制订工作组所有参与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),程虹(首都医科大学附属北京安贞医院肾内科),韩飞(浙江大学医学院附属第一医院肾脏病中心),郝传明(复旦大学附属华山医院肾内科),胡颖(浙江大学医学院附属第二医院肾内科),李明喜(北京协和医院肾内科),李雪梅(北京协和医院肾内科),李月红(北京清华长庚医院肾内科),刘俊涛(北京协和医院妇产科),刘小荣(首都医科大学附属北京儿童医院肾内科),刘晓清(北京协和医院感染内科临床流行病学教研室),刘雅萍(中国医学科学院基础医学研究所医学遗传学系),陆晨(新疆维吾尔自治区人民医院肾内科),毛永辉(北京医院肾内科),梅长林(上海长征医院肾内科),秦岩(北京协和医院肾内科),邱玲(北京协和医院检验科),任红(上海交通大学医学院附属瑞金医院肾内科),童安莉(北京协和医院内分泌科),王悦(北京大学第三医院肾内科),魏珉(北京协和医院儿科),夏维波(北京协和医院内分泌科),杨琼琼(中山大学附属第一医院肾内科),姚丽(中国医科大学附属第一医院肾内科),易杰(北京协和医院麻醉科),张宏(北京大学第一医院肾内科),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),郑智华(中山大学附属第一医院肾内科)
    秘书组成员:张磊(北京协和医院肾内科),简珊(北京协和医院儿科),牟利军(浙江大学医学院附属第二医院肾内科),袁涛(北京协和医院内分泌科)
    执笔者:陈丽萌(北京协和医院肾内科),张磊(北京协和医院肾内科),简珊(北京协和医院儿科),牟利军(浙江大学医学院附属第二医院肾内科),袁涛(北京协和医院内分泌科),彭晓艳(首都儿科研究所附属儿童医院肾内科),蒋兰萍(中山大学附属第一医院肾内科),赵冰彬(北京协和医院肾内科),马亦昕(北京协和医院肾内科),施潇潇(北京协和医院肾内科),纪培丽(北京协和医院肾内科)
  • 图  1  Gitelman综合征诊疗流程图

    RTA:肾小管酸中毒;RAS:肾素-血管紧张素系统;COX:环氧化酶;ACEI/ARB:血管紧张素转化酶抑制剂/血管紧张素受体拮抗剂

    图  2  改良的氯离子清除试验流程图

    表  1  本共识的证据等级定义

    证据等级 定义
    1a 总结多项随机对照研究的荟萃分析
    1b 至少有一项随机对照研究
    2a 至少有一项设计良好的对照研究,但未随机分组
    2b 至少有一项设计良好的其他类型的准试验研究
    3 设计良好的非试验性描述性研究,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
    下载: 导出CSV

    表  2  本共识的推荐强度定义

    推荐强度 定义 证据等级
    A(强) 有一项或多项高质量的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
    下载: 导出CSV

    表  3  中国人群Gitelman综合征患者的临床表现

    类别 常见症状(>50%) 多见症状(20%~50%) 偶见症状(<20%)
    全身症状 嗜盐,疲乏 口渴,多饮 -
    神经-肌肉系统 肌无力 手足抽搐、肌肉僵硬疼痛,感觉异常,头晕 眩晕,共济失调,软瘫,呼吸困难
    心血管系统 心悸,血压偏低 QT间期延长 晕厥
    泌尿系统 夜尿增多 多尿 -
    骨关节系统 - 软骨钙化 关节痛
    消化系统 - - 腹痛
    下载: 导出CSV

    表  4  Gitelman综合征患者低钾血症、低镁血症严重程度分级

    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,或低血钾伴轻瘫、肠梗阻,或危及生命的心律失常
    血镁(mmol/L) 0.60~0.70 0.45~0.59 0.30~0.44 <0.30,或伴危及生命的心律失常,或手足抽搐
    下载: 导出CSV

    表  5  Gitelman综合征临床表现分级建议

    级别 临床表现
    A级 无症状低钾血症(偶然化验发现低钾血症);或仅轻微乏力、疲劳、多饮、多尿等,不影响日常生活,不对患者造成困扰
    B级 自觉症状明显,一定程度上影响日常生活质量
    C级 严重或具有重要医学意义,但不危及生命;导致住院或住院时间延长;严重影响日常生活,可能影响自理能力
    D级 可能危及生命,需紧急治疗
    下载: 导出CSV
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  • 收稿日期:  2021-07-26
  • 录用日期:  2021-08-04
  • 网络出版日期:  2021-10-15
  • 刊出日期:  2021-11-30

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