hypocalciuric hypercalcaemia—familial—type 1

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hypocalciuric hypercalcaemia—familial—type 12016-11-26T05:26:47+00:00

hypocalciuric hypercalcaemia—familial—type 1

METABOLISM

Definition An autosomal dominant form (OMIM:145980) of hypocalciuric hypercalcemia, a banal disorder of mineral homeostasis.

Clinical findings Usually asymptomatic; chondrocalcinosis and pancreatitis may occur.

Lab Elevated serum calcium, low urinary calcium excretion, normal or mildly elevated circulating PTH, often accompanied by hypermagnesemia.

Molecular pathology Defects of CASR, which encodes a G protein-coupled receptor which senses small changes in circulating calcium concentration and modifies PTH secretion or renal cation handling to maintain mineral ion homeostasis, cause hypocalciuric hypercalcemia—familial type 1. 

Synonyms Familial benign hypercalcemia, hypercalcemia—familial benign, FBH1, FHH1, HHC1 hypocalciuric hypercalcemia—acquired (included)

References http://www.uniprot.org/uniprot/P41180

http://www.omim.org/entry/145980

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