Calcium Metabolism and Endocrine Functions in a Family with Familial Hypocalciuric Hypercalcemia

Abstract

Objective

We report two Hungarian patients with familial hypocalciuric hypercalcemia (FHH) caused by a mutation of the calcium-sensing receptor (CaSR) at codon 55. The proband and her father were heterozygous for this mutation.

Design

We performed detailed clinical and laboratory assessments of this family to characterize the effects of CaSR mutation on several endocrine organs expressing CaSR.

Results

Interestingly, we could not detect any failure in the function of any tissues we examined, except in serum calcium levels.

Conclusions

To our knowledge, this has been the first report from Eastern and Central Europe showing P55 L mutation of the CaSR, as well as the first publication discussing the effect of this mutation on several endocrine systems containing CASR.

Key words

Calcium-sensing receptor - familial hypocalciuric hypercalcemia - calcium metabolism

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