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2016 ; 2016
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Familial hypomagnesaemia with secondary hypocalcaemia
#MMPMID27624449
Patel S
; Rayanagoudar G
; Gelding S
BMJ Case Rep
2016[Sep]; 2016
(ä): ä PMID27624449
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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.