Renal hypomagnesemia 3
Renal hypomagnesemia 3
Definition
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.
Also known as CLDN16 familial primary hypomagnesemia, CLDN16 primary hypomagnesemia, familial primary hypomagnesemia caused by mutation in CLDN16, FHHNC without severe ocular involvement, HOMG3, primary hypomagnesemia caused by mutation in CLDN16, renal hypomagnesemia type 3 — per MONDO