慢性肌肉骨骼疼痛作为成年期Gitelman综合征的首发表现：一例病例报告
Chronic Musculoskeletal Pain as an Initial Presentation of Gitelman Syndrome in Adulthood: A Case Report.
摘要(中文译文)
Gitelman综合征是一种常染色体隐性遗传性失盐性肾小管病，以低钾血症、代谢性碱中毒、低镁血症和低钙尿症为特征。该病可在成年期发病，表现为非特异性症状，包括肌肉痉挛、疲劳和肌肉骨骼不适。我们报告一例34岁男性电气工程师，有三年的下背痛、颈肩痛及神经根病病史。其脊柱病史仅作背景简要提及。检查发现其存在持续性低钾血症（血清K⁺约2.9-3.4 mmol/L）、低镁血症（血清Mg²⁺约0.97-1.16 mmol/L）、代谢性碱中毒（血清HCO₃⁻约28-31 mmol/L，动脉血气pH约7.49）及尿钙排泄分数降低（FECa约0.002）。相关检查排除了其他导致钾和镁丢失的原因；血压正常。临床诊断为Gitelman综合征。处理措施包括指导患者采用高钠饮食并摄入富含钾和镁的食物、补充钾和镁，并计划启动依普利酮治疗及补充氯化钠。我们讨论了Gitelman综合征的病理生理学、其典型生化特征、鉴别诊断（包括Bartter综合征）、该患者肌肉骨骼疼痛在电解质紊乱背景下的相关性以及治疗方面的考量。本病例强调了在表现为持续性低钾血症、低镁血症和代谢性碱中毒的成人中考虑Gitelman综合征的重要性，即使肌肉骨骼症状为主要表现。早期识别有助于实施针对性治疗，从而可能改善生活质量。
Abstract
Gitelman syndrome is an autosomal recessive salt-wasting tubulopathy characterized by hypokalemia, metabolic alkalosis, hypomagnesaemia and hypocalciuria. It may present in adulthood with nonspecific symptoms including cramps, fatigue and musculoskeletal complaints. We report the case of a 34-year-old male electrical engineer with a three-year history of low back pain, neck and shoulder pain, and radiculopathy. His spinal history is briefly noted as contextual. He was found to have persistent hypokalemia (serum K⁺ ~2.9-3.4 mmol/L), hypomagnesaemia (serum Mg²⁺ ~0.97-1.16 mmol/L), metabolic alkalosis (serum HCO₃⁻ ~28-31 mmol/L, arterial blood gas pH ~7.49) and low urinary fractional excretion of calcium (FECa ~0.002). Work-up excluded other causes of potassium and magnesium wasting; normal blood pressure was noted. A clinical diagnosis of Gitelman syndrome was made. Management included counselling regarding a high-sodium diet together with potassium-rich and magnesium-rich foods, supplementation of potassium and magnesium, and planned initiation of eplerenone and sodium chloride supplementation. We discuss the pathophysiology of Gitelman syndrome, its typical biochemical profile, differential diagnosis (including Bartter syndrome), the relevance of the patient's musculoskeletal pain in the setting of electrolyte imbalance, and therapeutic considerations. This case underscores the importance of considering Gitelman syndrome in adults presenting with persistent hypokalemia, hypomagnesaemia and metabolic alkalosis, even when musculoskeletal symptoms dominate the presentation. Early recognition allows targeted therapy, potentially improving quality of life.
如何引用
AMA
Shreya Nair, Lisha Michel M, Kiran Kumar, Nainika M Fathima, Hygieia R Jacob. Chronic Musculoskeletal Pain as an Initial Presentation of Gitelman Syndrome in Adulthood: A Case Report.. Cureus. 2026; doi:10.7759/cureus.110572.
APA
Shreya Nair, Lisha Michel M, Kiran Kumar, Nainika M Fathima, Hygieia R Jacob (2026). Chronic Musculoskeletal Pain as an Initial Presentation of Gitelman Syndrome in Adulthood: A Case Report.. Cureus. https://doi.org/10.7759/cureus.110572
GB/T 7714
Shreya Nair, Lisha Michel M, Kiran Kumar, Nainika M Fathima, Hygieia R Jacob. Chronic Musculoskeletal Pain as an Initial Presentation of Gitelman Syndrome in Adulthood: A Case Report.[J]. Cureus, 2026 doi:10.7759/cureus.110572.
在 PubMed增强版 阅读全文
翻译全文 · AI 文献问答 · PDF 原文下载 · 引用导出