What is isolated recessive hypomagnesemia (IRH) with normocalcemia?

Updated: Oct 30, 2020
  • Author: Tibor Fulop, MD, PhD, FACP, FASN; Chief Editor: Vecihi Batuman, MD, FASN  more...
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Answer

IRH with normocalcemia is an autosomal-recessive disorder in which affected individuals present with symptoms of hypomagnesemia early during infancy. Hypomagnesemia due to increased urinary magnesium excretion appears to be the only abnormal biochemical finding. IRH is distinguished from the autosomal-dominant form by the lack of hypocalciuria. [104] It is caused by a mutation in the EGF gene, resulting inadequate stimulation of renal epidermal growth factor receptor (EGFR), and thereby insufficient activation of the epithelial Mg2+ channel TRPM6, which results in magnesium wasting. [6]


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