The Effect of Calcium-Sensing Receptor Gene Polymorphisms on Serum Calcium Levels: A Familial Hypocalciuric Hypercalcemia Family without Mutation in the Calcium-Sensing Receptor Gene

摘要

Familial hypocalciuric hypercalcemia (FHH) is a benign syndrome with elevated levels of serum calcium, relative hypocalciuria, and non-suppressed serum parathyroid hormone (PTH) levels. FHH usually occurs by a heterozygous mutation of the calcium sensing receptor (Casr), but some FHH patients show no mutations of the Casr. We encountered a unique FHH family in which the proband and her mother had many calcium deposits on Their skin. The proband was medicated with Levothyroxine for hypothyroidism due to an iodine transport defect (ITD). We searched for mutation of the Case, but found none.