familial hypomagnesemia type 3; familial hypomagnesemia with hypercalciuria & nephrocalcinosis (FHHNC)

Genetics

• type 3 associated with defects in CLDN16

Clinical manifestations

• progressive renal disease
• primary renal Mg+2 wasting
• nephrocalcinosis
• recurrent urinary tract infections
• kidney stones

Laboratory

• serum magnesium: hypomagnesemia
• 24 hour urine calcium: hypercalciuria
• serum calcium generally normal

More general terms

• familial hypomagnesemia
• genetic disease of the kidney

Database

• OMIM: https://mirror.omim.org/entry/248250