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Gitelmanʼs syndrome with hyperphosphatemia, effectively responding to single oral magnesium oxide administration

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Title: Gitelmanʼs syndrome with hyperphosphatemia, effectively responding to single oral magnesium oxide administration
Authors: Miya, Aika Browse this author
Nakamura, Akinobu Browse this author →KAKEN DB
Kameda, Hiraku Browse this author →KAKEN DB
Nozu, Kandai Browse this author
Miyoshi, Hideaki Browse this author →KAKEN DB
Atsumi, Tatsuya Browse this author →KAKEN DB
Keywords: Gitelman’s syndrome
hypocalciuric hypocalcemia
parathyroid hormone
Issue Date: 2019
Publisher: Lippincott Williams & Wilkins
Journal Title: Medicine
Volume: 98
Issue: 28
Start Page: e16408
Publisher DOI: 10.1097/MD.0000000000016408
Abstract: Rationale: The Gitelman’s syndrome (GS) is characterized by metabolic alkalosis, hypokalemia, hypomagnesemia, and hypocalciuria. However, the involvement of this deranged electrolyte balance in patients with GS in parathyroid hormone action has not been known. Patient concerns: We report a 34-year-old woman with muscle weakness and tetany/seizures caused by electrolyte imbalance. She had hyperphosphatemia and hypocalciuric hypocalcemia in addition to severe hypomagnesemia with low potassium in the absence of metabolic alkalosis. We identified 2 heterozygous mutations in the solute carrier family 12 member 3 gene in this case (c.1732G>A, p.Val578Met and c.2537_38delTT, p.846fs) by targeted sequence for all causative genes of salt-losing tubulopathies. Diagnoses:A diagnosis of GS. Hypocalcemia and hyperphosphatemia were suggested to relate with the secondary obstruction of appropriate parathyroid hormone release following severe hypomagnesemia in GS. Interventions: She was treated with single oral magnesium oxide administration. Outcomes: The electrolyte imbalance including hypocalcemia and hyperphosphatemia were resolved with a remission of clinical manifestations. Lessons: These observations, in this case, suggest that even severe hypomagnesemia caused by GS was associated with resistance to appropriate parathyroid hormone secretion. Through this case, we recognize that secondary hypoparathyroidism would be triggered by severe hypomagnesemia in GS.
Type: article
Appears in Collections:医学院・医学研究院 (Graduate School of Medicine / Faculty of Medicine) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

Submitter: 三好 秀明

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