Gitelman syndrome, a rare condition: three clinical cases and pathophysiology review

Daniel Meireles, Rafael Figueiredo, L. Rocha, Joaquim Cunha, P. Matos
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Abstract

Introduction: Gitelman syndrome (GS) is a renal tubular disorder characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. Clinical manifestations are nonspecific. Herein are reported three cases of GS with different age of onset, clinical manifestations, and management.Case Reports: Case 1 was a sixteen-year-old female, while Cases 2 and 3 presented at an atypical age (seven and eight years). Clinical manifestations mainly consisted of abdominal pain with vomits, together with past history of muscular weakness in Case 1. Diagnosis was based on usual electrolyte abnormalities, such as metabolic alkalosis with hypokalemia. Genetic diagnosis was confirmed in Case 3. Patients were treated with oral potassium, magnesium, and spironolactone, with symptom and electrolytic profile improvement.Discussion/Conclusions: GS is a rare condition that should be considered in cases of metabolic alkalosis and hypokalemia and all pediatricians should be aware of. Diagnosis is established based on biochemical profile and treatment response.
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Gitelman综合征,一种罕见的疾病:三个临床病例和病理生理复习
Gitelman综合征(GS)是一种以低钾血症、代谢性碱中毒、低镁血症和低钙尿为特征的肾小管疾病。临床表现无特异性。本文报告三例不同发病年龄、临床表现及治疗方法的GS病例。病例报告:病例1为16岁女性,而病例2和病例3为非典型年龄(7岁和8岁)。病例1临床表现以腹痛呕吐为主,既往有肌无力病史。诊断基于通常的电解质异常,如代谢性碱中毒伴低钾血症。病例3的遗传诊断得到证实。患者口服钾、镁和螺内酯治疗,症状和电解质谱得到改善。讨论/结论:GS是一种罕见的疾病,在代谢性碱中毒和低钾血症病例中应予以考虑,所有儿科医生都应注意。诊断是根据生化特征和治疗反应建立的。
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