Gitelman's syndrome with hyperphosphatemia, effectively responding to single oral magnesium oxide administration: A case report
Miya A, Nakamura A, Kameda H, Nozu K, Miyoshi H, Atsumi T
Medicine · 2 citations
How it was studied
- Design
- Case report (indexed by PubMed)
- Studied in
- People
- Main outcome
- Health markers and function
Who paid for it
- Funding
- Independent funding
Based on full-text disclosure statement.
Publication
- Published
- 2019-07-01 · Medicine (Baltimore) · vol. 98 · issue 28 · p. e16408
- Publisher
- Wolters Kluwer
- Cited
- 2 citations · more than 5% of similar papers · 0.0× the field average
- References
- 22 works
- Access
- Open access (journal) · CC-BY-NC
- Research areas
- Ion Transport and Channel Regulation · Parathyroid Disorders and Treatments · Genetic Syndromes and Imprinting
- Keywords
- Hypomagnesemia, Hyperphosphatemia, Medicine, Hypocalciuria, Hypokalemia, Internal medicine, Tetany, Metabolic alkalosis, Endocrinology, Gitelman syndrome, Hypoparathyroidism, Parathyroid hormone, Gastroenterology, Calcium, Magnesium, Chemistry
- MeSH
- humans, magnesium oxide, antacids, administration, oral, adult, female, gitelman syndrome, hyperphosphatemia
6 authors
From JP
- Aika MiyaHokkaido University
- Akinobu Nakamura · correspondingHokkaido University
- Hiraku KamedaHokkaido University
- Kandai NozuKobe University
- Hideaki MiyoshiHokkaido University
- Tatsuya AtsumiHokkaido University
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.
Abstract via Europe PMC. Copyright remains with the authors or publisher (CC BY-NC).
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