AI Article Synopsis
- Hypomagnesaemia with secondary hypocalcaemia (HSH) is a rare disorder in newborns, often marked by seizures and growth issues.
- A case of HSH linked to a new TRPM6 mutation emphasizes the importance of early diagnosis and consistent treatment with oral magnesium to prevent developmental problems.
- Studying various mutations in the TRPM6 gene is crucial for accurate diagnosis and enhances understanding of magnesium balance in the body.
Article Abstract
Hypomagnesaemia with secondary hypocalcaemia (HSH) is a rare condition usually presenting in the newborn period as refractory seizures, other symptoms of increased neuromuscular excitability and growth disturbances. A case with a novel TRPM6 mutation with an excellent long-term outcome is reported to highlight the observation that clinical suspicion is essential for an early diagnosis and treatment of HSH. The compliance of a long-term treatment with oral magnesium supplements is critical to avoid abnormalities of neurological and physical development. The finding of novel mutations supports the notion that the molecular study of the whole TRPM6 gene is required for diagnostic accuracy. Furthermore, the molecular study of the different types of hereditary hypomagnesaemia is critical to further improve our knowledge of magnesium homeostasis.
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| http://dx.doi.org/10.1007/s00431-008-0767-1 | DOI Listing |
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