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 citas
Cómo se estudió
- Diseño
- Reporte de caso (indexado por PubMed)
- Estudiado en
- Personas
- Resultado principal
- Marcadores de salud y funcionamiento
Quién lo pagó
- Financiación
- Financiación independiente
Según la declaración de financiación del texto completo.
Publicación
- Publicado
- 2019-07-01 · Medicine (Baltimore) · vol. 98 · número 28 · pág. e16408
- Editorial
- Wolters Kluwer
- Citado
- 2 citas · más que el 5% de estudios similares · 0.0× el promedio de su campo
- Referencias
- 22 trabajos
- Acceso
- Acceso abierto (revista) · CC-BY-NC
- Áreas de investigación
- Ion Transport and Channel Regulation · Parathyroid Disorders and Treatments · Genetic Syndromes and Imprinting
- Palabras clave
- 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 autores
- Aika Miya🇯🇵Hokkaido University
- Akinobu Nakamura🇯🇵 · autor de correspondenciaHokkaido University
- Hiraku Kameda🇯🇵Hokkaido University
- Kandai Nozu🇯🇵Kobe University
- Hideaki Miyoshi🇯🇵Hokkaido University
- Tatsuya Atsumi🇯🇵Hokkaido University
Resumen
El texto original del estudio, en el idioma en que se publicó.
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.
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