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Isolated dominant hypomagnesemia
Clinical feature:
Definition: Isolated dominant hypomagnesemia (IDH) is an autosomal dominant disorder of magnesium wastage. The mild hypomagnesemia occurs without other electrolyte abnormalities. A mutation in the FXYD2 gene is responsible for this disorder.
History: An autosomal dominant magnesium wasting disorder has been first described by Geven in 1987.
Diagnostics:
Differential: Isolated recessive hypomagnesemia (IRH) inherits recessively, so we would not expect a family history but consanguinity.
» » » Hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is characterized by renal calcium wastage.
» » » Hypomagnesemia with secondary hypocalcemia (HSH) has no hypercalciuria, too, but hypocalcemia.
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