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