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Gitelman's syndrome with hyperphosphatemia, effectively responding to single oral magnesium oxide administration A case report
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| Title: | Gitelman's syndrome with hyperphosphatemia, effectively responding to single oral magnesium oxide administration A case report |
| Authors: | Miya, Aika Browse this author | | Nakamura, Akinobu Browse this author →KAKEN DB | | Kameda, Hiraku Browse this author | | Nozu, Kandai Browse this author →KAKEN DB | | Miyoshi, Hideaki Browse this author →KAKEN DB | | Atsumi, Tatsuya Browse this author →KAKEN DB |
| Keywords: | Gitelman's syndrome | | hyperphosphatemia | | hypocalciuric hypocalcemia | | hypomagnesemia | | parathyroid hormone |
| Issue Date: | Jul-2019 |
| Publisher: | Lippincott Williams & Wilkins (LWW) |
| Journal Title: | Medicine |
| Volume: | 98 |
| Issue: | 28 |
| Start Page: | e16408 |
| Publisher DOI: | 10.1097/MD.0000000000016408 |
| PMID: | 31305454 |
| 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. |
| Rights: | https://creativecommons.org/licenses/by-nc/4.0/ |
| Type: | article |
| URI: | http://hdl.handle.net/2115/75512 |
| 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)
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