Gitelman syndrome diagnosed in the first trimester of pregnancy: a case report and literature review
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.
- Standort
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Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
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Online-Ressource
- Sprache
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Englisch
- Erschienen in
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Gitelman syndrome diagnosed in the first trimester of pregnancy: a case report and literature review ; volume:12 ; number:1 ; year:2022 ; extent:06
Case reports in perinatal medicine ; 12, Heft 1 (2022) (gesamt 06)
- Urheber
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Cao, Yang
Hu, Dan
Yun, Peng
Huang, Xinwei
Chen, Yan
Li, Fangping
- DOI
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10.1515/crpm-2021-0075
- URN
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urn:nbn:de:101:1-2022121713044343296825
- Rechteinformation
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
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15.08.2025, 07:28 MESZ
Datenpartner
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- Cao, Yang
- Hu, Dan
- Yun, Peng
- Huang, Xinwei
- Chen, Yan
- Li, Fangping
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