Conditions / Genetic
renal hypomagnesemia 3
info · Genetic · ICD-10: E83.4
A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28.
Signs and symptoms
- Hyposthenuria
- Nephrocalcinosis
- Renal insufficiency
- Short metacarpal
- Elevated circulating beta-CTX concentration
- Bowing of the legs
- Genu valgum
- Muscle weakness
- Proteinuria
- Hyperuricemia
Also known as: FHHNC without severe ocular involvement; HOMG3; familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement; isolated renal hypomagnesemia; primary hypomagnesemia due to defect in renal tubular transport of magnesium