Familial hypomagnesaemia with secondary hypocalcaemia.
Magnesium is the second most abundant intracellular cation and plays an essential role in neuronal, skeletal and cardiac tissue. Hypomagnesaemia can cause hypocalcaemia by inhibiting parathyroid hormone release and inducing resistance at its receptor sites. Untreated hypomagnesaemia can lead to tetany, recurrent seizures, status epilepticus and life-threatening arrhythmias. Primary hypomagnesaemia with secondary hypocalcaemia (HSH) is a rare metabolic disorder of intestinal magnesium absorption. The condition typically presents in the neonatal period with neuromuscular excitability and seizures refractory to antiepileptic therapy. Early diagnosis and prompt magnesium replacement are essential to prevent death or long-term neurodevelopmental sequelae. Fewer than a hundred cases are reported in the literature. Recent advances have added significantly to our understanding of the genetic basis of HSH. We report the presentation and long-term follow-up of an affected female who was found to have a mutation in the transient receptor potential melastatin 6 (TRPM6) gene, encoding a transient receptor potential cation channel.
Department of Endocrinology, Barts Health NHS Trust, London, UK.
Sabina
S
Patel
Department of Endocrinology, Barts Health NHS Trust, London, UK.
Girish
G
Rayanagoudar
Department of Endocrinology, Barts Health NHS Trust, London, UK.
Susan
S
Gelding
D004830:Epilepsy, Tonic-Clonic / Q000235:genetics; D005260:Female; D006801:Humans; D006996:Hypocalcemia / Q000150:complications / Q000235:genetics*; D007231:Infant, Newborn; D008275:Magnesium Deficiency / Q000150:complications / Q000151:congenital* / Q000235:genetics; D009154:Mutation; D050053:TRPM Cation Channels / Q000235:genetics
D050053:TRPM Cation Channels; C459082:TRPM6 protein, human