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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
General
familial hypomagnesemia
genetic disease of the kidney
Database Correlations
OMIM 248250
References
OMIM :accession 248250