hypomagnesaemia with hypocalcuria and nephrocalcinosis

Quick Reference

A familial disorder (FHHNC) of renal function associated with mutation in tight junction proteins (claudins). The standard form is associated with mutation in paracellin-1 (claudin 16), and a related form with severe ocular involvement is caused by mutations in the tight-junction gene claudin-19.

Subjects: Medicine and Health.

Reference entries