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Gitelman's syndrome with hyperphosphatemia, effectively responding to single oral magnesium oxide administration: A case report.
Medicine (Baltimore) 2019; 98(28):e16408M

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.

Authors+Show Affiliations

Department of Rheumatology, Endocrinology and Nephrology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo.Department of Rheumatology, Endocrinology and Nephrology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo.Department of Rheumatology, Endocrinology and Nephrology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo.Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe.Division of Diabetes and Obesity, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.Department of Rheumatology, Endocrinology and Nephrology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

31305454

Citation

Miya, Aika, et al. "Gitelman's Syndrome With Hyperphosphatemia, Effectively Responding to Single Oral Magnesium Oxide Administration: a Case Report." Medicine, vol. 98, no. 28, 2019, pp. e16408.
Miya A, Nakamura A, Kameda H, et al. Gitelman's syndrome with hyperphosphatemia, effectively responding to single oral magnesium oxide administration: A case report. Medicine (Baltimore). 2019;98(28):e16408.
Miya, A., Nakamura, A., Kameda, H., Nozu, K., Miyoshi, H., & Atsumi, T. (2019). Gitelman's syndrome with hyperphosphatemia, effectively responding to single oral magnesium oxide administration: A case report. Medicine, 98(28), pp. e16408. doi:10.1097/MD.0000000000016408.
Miya A, et al. Gitelman's Syndrome With Hyperphosphatemia, Effectively Responding to Single Oral Magnesium Oxide Administration: a Case Report. Medicine (Baltimore). 2019;98(28):e16408. PubMed PMID: 31305454.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Gitelman's syndrome with hyperphosphatemia, effectively responding to single oral magnesium oxide administration: A case report. AU - Miya,Aika, AU - Nakamura,Akinobu, AU - Kameda,Hiraku, AU - Nozu,Kandai, AU - Miyoshi,Hideaki, AU - Atsumi,Tatsuya, PY - 2019/7/16/entrez PY - 2019/7/16/pubmed PY - 2019/7/30/medline SP - e16408 EP - e16408 JF - Medicine JO - Medicine (Baltimore) VL - 98 IS - 28 N2 - 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. SN - 1536-5964 UR - https://www.unboundmedicine.com/medline/citation/31305454/Gitelman's_syndrome_with_hyperphosphatemia,_effectively_responding_to_single_oral_magnesium_oxide_administration:_A_case_report L2 - http://Insights.ovid.com/pubmed?pmid=31305454 DB - PRIME DP - Unbound Medicine ER -