Conditions / Genetic

renal hypomagnesemia 7, with or without dilated cardiomyopathy

info ยท Genetic

A hypomagnesemia characterized by renal salt wasting resulting in hypomagnesemia with secondary effects such as hypokalemia or hypocalcemia that has_material_basis_in heterozygous mutation in the RRAGD gene on chromosome 6q15.

Signs and symptoms

  • Hypomagnesemia
  • Reduced left ventricular ejection fraction
  • Elevated left ventricular end-diastolic diameter
  • Nephrocalcinosis
  • Dilated cardiomyopathy
  • Polyuria
  • Metabolic acidosis
  • Hyponatremia
  • Hypokalemia
  • Hypocalcemia