作者投稿
专家审稿
编辑办公
主编办公
Gitelman综合征诊疗中国专家共识(2021版)
doi: 10.12376/j.issn.2097-0501.2022.01.010
通信作者：陈丽萌1, 3, E-mail：chenlimeng@pumch.cn
张抒扬2, 3, E-mail：shuyangzhang103@163.com
张抒扬2, 3, E-mail：shuyangzhang103@163.com
Expert Consensus for the Diagnosis and Treatment of Gitelman Syndrome in China (2021)
Corresponding authors: CHEN Limeng1, 3, E-mail: chenlimeng@pumch.cn
ZHANG Shuyang2, 3, E-mail: shuyangzhang103@163.com
ZHANG Shuyang2, 3, E-mail: shuyangzhang103@163.com
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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。
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关键词:
- Gitelman综合征 /
- 诊断 /
- 治疗
Abstract: In recent years, research on the clinical phenotypes, new classifications, modified functional tests, biomarkers and management experience for patients with Gitelman syndrome (GS)has made a lot of progress in China. Based on evidence-based medicine, this consensus summarizes aspects related to GS, including clinical manifestations and classification, diagnosis, treatment strategies, and management of chronic complica-tions and comorbidity. This consensus provides an important reference for the diagnosis and treatment of GS.-
Key words:
- Gitelman syndrome /
- diagnosis /
- treatment
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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
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 
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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
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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
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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
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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
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