Gitelman syndrome diagnosed in the first trimester of pregnancy: a case report and literature review

IF 0.1 Q4 OBSTETRICS & GYNECOLOGY

Case Reports in Perinatal Medicine Pub Date : 2022-09-02 DOI:10.1515/crpm-2021-0075

Yang Cao, Dandan Hu, Peng Yun, Xinwei Huang, Yan Chen, Fangping Li

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引用次数: 0

Abstract

Abstract Objectives Gitelman syndrome is a rare salt-losing tubulopathy caused by inactivating mutations in the SLC12A3 gene, which is expressed in the distal convoluted tubule and accounts for 5–10% of renal sodium reabsorption. Atypical symptoms and insidious conditions generally delay diagnosis until childhood or even adulthood. Here, we report the case of a 22-year-old Chinese woman who was admitted to our endocrinology department for severe hypokalemia during pregnancy. Case presentation The patient had no specific symptoms but exhibited hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria, hyperreninemia, hyperaldosteronism, and normal blood pressure. Together, these symptoms indicated the clinical diagnosis of Gitelman syndrome, which was confirmed by genetic analysis. Many drugs have limited safety data during early pregnancy, and optimum potassium and magnesium levels are necessary for a successful pregnancy. Conclusions Diagnosis and management of Gitelman syndrome are crucial during pregnancy to ensure the safety of the mother and fetus, especially during the first trimester.

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妊娠早期诊断的吉特尔曼综合征:1例报告及文献回顾

【摘要】目的Gitelman综合征是一种罕见的由SLC12A3基因失活突变引起的失盐小管病，该基因表达于远曲小管，占肾脏钠重吸收的5-10%。非典型症状和潜伏的条件通常延迟诊断，直到儿童甚至成年。在这里，我们报告一例22岁的中国妇女，她在怀孕期间因严重的低钾血症而入院内分泌科。患者无特殊症状，但表现为低钾血症、代谢性碱中毒、低镁血症、低钙尿症、高肾素血症、高醛固酮血症和血压正常。总之，这些症状表明Gitelman综合征的临床诊断，这是由遗传分析证实。许多药物在妊娠早期的安全性数据有限，而最佳的钾和镁水平是成功妊娠所必需的。结论妊娠期，尤其是妊娠早期，对Gitelman综合征的诊断和处理是保证母胎安全的关键。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Case Reports in Perinatal Medicine OBSTETRICS & GYNECOLOGY-

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期刊介绍： Case Reports in Perinatal Medicine is a double-blind peer-reviewed journal. The objective of the new journal is very similar to that of JPM. In addition to evidence-based studies, practitioners in clinical practice esteem especially exemplary reports of cases that reveal specific manifestations of diseases, its progress or its treatment. We consider case reports and series to be brief reports describing an isolated clinical case or a small number of cases. They may describe new or uncommon diagnoses, unusual outcomes or prognosis, new or infrequently used therapies and side effects of therapy not usually discovered in clinical trials. They represent the basic concept of experiences for studies on representative groups for further evidence-based research. The potential roles of case reports and case series are: Recognition and description of new diseases Detection of drug side effects (adverse or beneficial) Study of mechanisms of disease Medical education and audit Recognition of rare manifestations of disease.