renal hypomagnesemia 5 with ocular involvement

info · Genetic

A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has_material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2.

Signs and symptoms

Nephrocalcinosis
Renal magnesium wasting
Hypermagnesiuria
Hypercalciuria
Hypomagnesemia
Nystagmus
Myopia
Stage 5 chronic kidney disease
Recurrent urinary tract infections
Astigmatism

Also known as: FHHNC with severe ocular involvement; Meier-Blumberg-Imahorn syndrome; bilateral macular coloboma with hypercalciuria; familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement; hypercalciuria-bilateral macular coloboma syndrome