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Gitelman综合征

Gitelman syndrome

ORPHA:358疾病中国目录 第1批 · 33

定义 英文原文（暂无中文）

A rare syndrome characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion.

别名

原发性肾小管性低钾性低镁血症伴低尿钙

基本事实

遗传方式
常染色体隐性
发病年龄
儿童期
患病率
1-9 / 100 000（Europe）

相关基因 2

基因名称关联类型
SLC12A3solute carrier family 12 member 3Disease-causing germline mutation(s) (loss of function) in
CLCNKBchloride voltage-gated channel KbDisease-causing germline mutation(s) (loss of function) in

临床表型 68

极常见 99–80%1

  • 低钾血症 HP:0002900

常见 79–30%6

  • 腹痛 HP:0002027
  • 发育迟滞 HP:0001508
  • 低镁血症 HP:0002917
  • 低至正常血压 HP:0002632
  • 肌无力 HP:0001324
  • QT间期延长 HP:0001657

偶见 29–5%13

  • 青春期发育延迟 HP:0000823
  • 遗尿症 HP:0000805
  • 糖耐量异常 HP:0001952
  • 高镁血症 HP:0002918
  • 低钙血症 HP:0002901
  • 胰岛素抵抗 HP:0000855
  • 代谢性碱中毒 HP:0200114
  • 肌肉痉挛 HP:0003394
  • 恶心和呕吐 HP:0002017
  • 夜尿症 HP:0000017
  • 蛋白尿 HP:0000093
  • 肾源性钾流失 HP:0000128
  • 嗜盐 HP:0030083

罕见 <4–1%48

  • T波异常 HP:0005135
  • 关节疼痛 HP:0002829
  • 视力模糊 HP:0000622
  • 脑钙化 HP:0002514
  • 软骨钙质沉着症 HP:0000934
  • 便秘 HP:0002019
  • 尿钾降低 HP:0012364
  • 糖尿病酮症酸中毒 HP:0001953
  • 腹泻 HP:0002014
  • 日间睡眠增多 HP:0001262
  • 局灶节段性肾小球硬化 HP:0000097
  • 局灶性发作 HP:0007359
  • 痛风 HP:0001997
  • Graves病 HP:0100647
  • 桥本甲状腺炎 HP:0000872
  • 头痛 HP:0002315
  • 多汗症 HP:0000975
  • 失眠 HP:0100785
  • 缺铁性贫血 HP:0001891
  • 母体糖尿病 HP:0009800
  • 线粒体脑病 HP:0006789
  • 肌痛 HP:0003326
  • 胰腺肿瘤 HP:0002894
  • 心悸 HP:0001962
  • 瘫痪 HP:0003470
  • 甲状旁腺腺瘤 HP:0002897
  • 感觉异常 HP:0003401
  • 心包积液 HP:0001698
  • 烦渴 HP:0001959
  • 原发性醛固酮增多症 HP:0011736
  • PR间期延长 HP:0012248
  • U波明显 HP:0025072
  • 雷诺现象 HP:0030880
  • 肾范可尼综合征 HP:0001994
  • 肾小管性酸中毒 HP:0001947
  • 呼吸窘迫 HP:0002098
  • 横纹肌溶解症 HP:0003201
  • ST段压低 HP:0012250
  • 硬皮病 HP:0100324
  • 晕厥 HP:0001279
  • 耳鸣 HP:0000360
  • 肾小管间质性肾炎 HP:0001970
  • 1型糖尿病 HP:0100651
  • 2型糖尿病 HP:0005978
  • 尿失禁 HP:0000020
  • 静脉曲张 HP:0002619
  • 心室纤颤 HP:0001663
  • 眩晕 HP:0002321

近两年的全球研究 254L2

2024/10 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。

  • 2026-09开放获取
    The population frequency of predicted pathogenic variants in the genes associated with Autosomal Dominant Polycystic Liver Disease (ADPLD) and kidney cysts
    PloS one · DOI · Europe PMC
  • 2026-09开放获取
    Dapagliflozin Attenuates NKCC2 Protein Expression and Alleviates Diabetic Kidney Disease in Salt Loaded-Hypertensive Diabetic Db/Db Mice
    FASEB bioAdvances · DOI · Europe PMC
  • 2026-09病例报告
    Symptomatic heterozygous Gitelman syndrome in a professional baseball player: a case report
    Journal of osteopathic medicine · DOI · Europe PMC
  • 2026-09
    Symptom Burden and Clinical Clues in Gitelman Syndrome and Pseudo-Gitelman Syndrome
    Kidney360 · DOI · Europe PMC
  • 2026-09开放获取
    Mitochondrial dysfunction drives metabolic reprogramming in Gitelman syndrome: insights from proteomics and isogenic modeling
    Human genetics · DOI · Europe PMC
  • 2026-09病例报告
    Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis and xerostomia syndrome caused by a novel claudin-10 variant in an adult with hypokalaemic metabolic alkalosis
    BMJ case reports · DOI · Europe PMC
  • 2026-09开放获取
    Random Urinary Calcium/Creatinine Ratio as a Predictor of Dehydration in Hypercalcemic and Normocalcemic Patients
    Journal of clinical medicine · DOI · Europe PMC
  • 2026-09综述开放获取
    The transformative impact of ultra-rapid nanopore sequencing in precision medicine
    Frontiers in immunology · DOI · Europe PMC
  • 2026-09开放获取
    Late‐Breaking Abstract Presentations : Oral Concurrent 3 – Infectious Disease Thursday, 8 October 2026   14:00 – 16:00
    Pregnancy (Hoboken, N.J.)
  • 2026-09病例报告开放获取
    Urine electrolytes guide treatment of Gitelman syndrome and recurrent syncope-A case report
    Physiological reports · DOI · Europe PMC
  • 2026-09开放获取
    Bushen Huatan Formula Ameliorates Early Chronic Low-Grade Inflammation in Obese PCOS Via the TLR4/NF-κB Signaling Pathway: An Integrated Network Pharmacology and Experimental Study
    Immunity, inflammation and disease · DOI · Europe PMC
  • 2026-09开放获取
    Bartter Syndrome With Normal Aldosterone Level and Acute Pancreatitis: An Unusual Presentation
    Clinical case reports · DOI · Europe PMC
  • 2026-09综述开放获取
    Nucleic Acids as Emerging Regulators of Calcium Phosphate Biomineralization
    FASEB journal : official publication of the Federation of American Soc · DOI · Europe PMC
  • 2026-09开放获取
    Reduced Expression of Magnesium Transport Proteins in the Distal Convoluted Tubule of Clcnkb-Deficient Mice May Explain Urinary Magnesium Wasting in Classical Bartter Syndrome
    Acta physiologica (Oxford, England) · DOI · Europe PMC
  • 2026-09
    Early-Onset Calcium Pyrophosphate Disease Associated With Genetic Hypomagnesemia: Beyond Gitelman Syndrome
    The Journal of rheumatology · DOI · Europe PMC
  • 2026-08开放获取
    Bridging the medical cliff: a paediatric-adult continuity of care model for 2,341 young adults with rare diseases in China
    Frontiers in pediatrics · DOI · Europe PMC
  • 2026-08病例报告开放获取
    Perioperative management of a patient with retrosternal giant goiter and Gitelman syndrome: a case report
    Frontiers in medicine · DOI · Europe PMC
  • 2026-08综述开放获取
    Role of miR-155 and miR-103 in Oxidative Stress in Cardiovascular Disease: A Narrative Review
    Pathophysiology : the official journal of the International Society fo · DOI · Europe PMC
  • 2026-08
    Investigating the role of urinary electrolyte parameters in the differential diagnosis of hypokalemia
    Clinical nephrology · DOI · Europe PMC
  • 2026-08综述病例报告开放获取
    A Candidate MEST Splice-Site Variant in a Patient with Silver-Russell Syndrome-like Phenotype: First Report and Literature Review
    Genes · DOI · Europe PMC

在中国开展的临床试验 1L2

按病名在 ClinicalTrials.gov 检索、并校验研究中心含中国大陆而来。登记状态不等于现在真的能入组——务必按 NCT 号到原站核实，并与主治医生商量。

登记为可入组 1

  • 招募中NCT06922370
    The Osteoarticular Manifestations in Patients With Gitelman Syndrome
    观察性 · 2021/11/01Second Affiliated Hospital, Zhejiang University, School of Medicine
    中国研究中心 1 个：Hangzhou

中国境外的在招试验 2L2

这些试验在中国没有研究中心，通常无法直接报名——入组一般要求在当地居住并接受随访。列在这里是因为它另有用处：看清楚全世界正在试哪些药、做到了哪一期、由谁在做。把药名和 NCT 编号记下来去问主治医生，或据此进一步查该药是否已在境外获批、是否有拓展性用药（expanded access）通道。

英国1

CT.gov 报告命中 2 项，此处取回并展示最近的 1 项。

  • 招募中NCT06065852
    National Registry of Rare Kidney Diseases
    观察性 · 2009/11/06UK Kidney Association
    英国

外部标识与链接

OrphanetOMIM:263800MONDO:0009904GARD:8547ICD-10 N15.8ICD-11 5C64.41ClinicalTrials.gov 检索

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本页数据来源

  • 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
  • 中文病名：Orphanet 中文包，冻结于 2020-06-01
  • 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）