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

Miya, Aika, Nakamura, Akinobu, Kameda, Hiraku, Nozu, Kandai, Miyoshi, Hideaki, Atsumi, Tatsuya

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.

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

抄録

収録刊行物

キーワード

詳細情報詳細情報について

書き出し

問題の指摘

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

抄録

収録刊行物

キーワード

詳細情報 詳細情報について

書き出し

問題の指摘

参加プロジェクトリスト

詳細情報詳細情報について