Three inherited disorders of calcium sensing.

Abstract:

:Three distinct disorders of calcium homeostasis can result from mutations in the gene encoding the human calcium-sensing receptors (CASR; MIM 145980). One form of autosomal dominant familial hypocalciuric hypercalcemia results from the heterozygous state of inactivating mutations in the CASR gene. Neonatal severe hyperparathyroidism results from homozygosity for inactivating mutations in the CASR gene. The severe phenotype demonstrates the fundamental role the calcium-sensing receptor plays in parathyroid function. Activating mutations can lead to autosomal dominant hypocalcemia. The role of the calcium-sensing receptor in the kidney, brain, and other organs in health and disease awaits clarification.

journal_name

Medicine (Baltimore)

journal_title

Medicine

authors

Pollak MR,Seidman CE,Brown EM

doi

10.1097/00005792-199605000-00001

subject

Has Abstract

pub_date

1996-05-01 00:00:00

pages

115-23

issue

3

eissn

0025-7974

issn

1536-5964

journal_volume

75

pub_type

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