Hypomagnesemia due to two novel TRPM6 mutations
Coulter M, Colvin C, Korf B, Messiaen L, Tuanama B, Crowley M, Crossman DK, McCormick K
Journal of pediatric endocrinology & metabolism : JPEM · 4 citas
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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 no declarada
Publicación
- Publicado
- 2015-01-01 · J Pediatr Endocrinol Metab · vol. 28 · número 11-12 · págs. 1373–8
- Editorial
- De Gruyter
- Citado
- 13 citas · más que el 81% de estudios similares · 1.4× el promedio de su campo
- Referencias
- 9 trabajos
- Acceso
- De pago
- Áreas de investigación
- Magnesium in Health and Disease · Parathyroid Disorders and Treatments · Ion Channels and Receptors
- Palabras clave
- Hypomagnesemia, Medicine, Magnesium, Hyperphosphatemia, Internal medicine, Calcitriol, Endocrinology, Calcium, Hypoparathyroidism, Parathyroid hormone, Magnesium deficiency (plants), Hypokalemia, Chemistry
- MeSH
- humans, renal tubular transport, inborn errors, hypocalcemia, hypoparathyroidism, magnesium, mutation, infant, newborn, male, trpm cation channels, hyperphosphatemia
8 autores
- Michelle Coulter🇺🇸 · autor de correspondenciaUniversity of Alabama at Birmingham
- Caroline Colvin🇺🇸University of Alabama at Birmingham
- Bruce R. Korf🇺🇸University of Alabama at Birmingham
- Ludwine M. Messiaen🇺🇸University of Alabama at Birmingham
- Benjamin Tuanama🇺🇸University of Alabama at Birmingham
- Michael Crowley🇺🇸University of Alabama at Birmingham
- David K. Crossman🇺🇸University of Alabama at Birmingham
- Kenneth L. McCormick🇺🇸University of Alabama at Birmingham
Resumen
El texto original del estudio, en el idioma en que se publicó.
Background
Although most hypocalcemia with hypomagenesemia in the neonatal period is due to transient neonatal hypoparathyroidism, magnesium channel defects should also be considered.
Case
We report a case of persistent hypomagnesemia in an 8-day-old Hispanic male who presented with generalized seizures. He was initially found to have hypomagnesemia, hypocalcemia, hyperphosphatemia and normal parathyroid hormone. Serum calcium normalized with administration of calcitriol and calcium carbonate. Serum magnesium improved with oral magnesium sulfate. However, 1 week after magnesium was discontinued, serum magnesium declined to 0.5 mg/dL. Magnesium supplementation was immediately restarted, and periodic seizure activity resolved after serum magnesium concentration was maintained above 0.9 mg/dL. The child was eventually weaned off oral calcium and calcitriol with persistent normocalemia. However, supraphysiologic oral magnesium doses were necessary to prevent seizures and maintain serum magnesium at the low limit of normal.
Methods and results
As his clinical presentation suggested primary renal magnesium wastage, TRPM6 gene mutations were suspected; subsequent genetic testing revealed the child to be compound heterozygous for TRPM6 mutations.
Conclusion
Two novel TRPM6 mutations are described with a new geographic and ethnic origin. This case highlights the importance of recognizing disorders of magnesium imbalance and describing new genetic mutations.
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