重度Gitelman综合征的家庭肠外支持：一例病例报告
Home Parenteral Support in Severe Gitelman Syndrome: A Case Report.
摘要(中文译文)
Gitelman综合征（GS），又称家族性低钾低镁血症，是一种罕见的常染色体隐性肾小管疾病，以低钾血症、低镁血症、代谢性碱中毒和低钙尿症为特征。电解质补充（钾和镁）仍是管理的基石，大多数患者可通过口服补充实现。我们报告一例65岁女性，表现为GS的严重类型，除口服补充外，还通过家庭肠外支持（HPS）方案接受大剂量静脉电解质补充治疗。启动HPS虽然挽救了生命并延长了生存期，但也对她的生活质量产生了负面影响，并且并发多次导管相关血流感染（CRBSI）和导管相关静脉血栓形成（CRVT）。在接受HPS 15年后，她的管理转诊至经认证的多学科肠衰竭（IF）单元下的共享照护模式。其显著的肠外电解质需求随后得到合理化调整，并提供复合家庭输注，通过允许她整夜睡眠而无需额外的连接和断开操作，减轻了治疗负担。未再发生CRBSI，也无需进一步更换静脉导管。在本病例报告中，我们展示了严重GS的表现，强调了此类病例中每日静脉电解质补充的必要性，并强调肾脏科与具有长期导管护理经验的团队之间的协作管理对于优化治疗、改善患者结局和提高生活质量至关重要。
Abstract
Gitelman syndrome (GS), also known as familial hypokalaemia-hypomagnesemia, is a rare autosomal recessive renal tubular disorder characterized by hypokalaemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. Electrolyte replacement of potassium and magnesium remains the mainstay of management, with oral supplementation achieving this in the majority of patients. We report the case of a 65-year-old woman with a severe manifestation of GS, managed with high-dose intravenous electrolyte replacement as part of a home parenteral support (HPS) regimen in addition to oral supplementation. Initiation of HPS, whilst life-saving and life-prolonging, also negatively impacted her quality of life and was complicated by multiple catheter-related bloodstream infections (CRBSI) and catheter-related venous thromboses (CRVT). After 15 years of HPS, her management was transitioned to a shared care model under an accredited multidisciplinary intestinal failure (IF) unit. Her significant parenteral electrolyte requirement was subsequently rationalized, and provision of compounded home infusions reduced her treatment burden by allowing her to sleep through each night without additional connections and disconnections. No further episodes of CRBSIs occurred, and no further venous catheter exchanges were necessary. In this case report, we illustrate the presentation of severe GS, highlight the necessity of daily intravenous electrolyte replacement in such cases, and emphasize how collaborative management between nephrology and teams experienced in long-term catheter care can be crucial in optimizing treatment, improving patient outcomes, and enhancing quality of life.
如何引用
AMA
Georgia Martin, Ibrahim Fahal, Shameer Mehta. Home Parenteral Support in Severe Gitelman Syndrome: A Case Report.. Clinical case reports. 2026; doi:10.1002/ccr3.73210.
APA
Georgia Martin, Ibrahim Fahal, Shameer Mehta (2026). Home Parenteral Support in Severe Gitelman Syndrome: A Case Report.. Clinical case reports. https://doi.org/10.1002/ccr3.73210
GB/T 7714
Georgia Martin, Ibrahim Fahal, Shameer Mehta. Home Parenteral Support in Severe Gitelman Syndrome: A Case Report.[J]. Clinical case reports, 2026 doi:10.1002/ccr3.73210.
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