Three novel mutations in patients with hypomagnesemia

What is it about?

When a child seizes, a magnesium level should be checked. There are multiple reasons why a magnesium level could be low, and they include genetic defects that lead to magnesium wasting in the kidneys. The paper describes the workup and reasons when to refer to a pediatric nephrologist. Many of the magnesium wasting tubulopathies can easily be treated, thereby preventing further seizures. The paper describes three cases with novel mutations in previously described conditions with tubular magnesium wasting.

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Why is it important?

It still happens that low magnesium concentrations in a seizing child are not recognized or worked up appropriately.