Zusammenfassung
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. ...
Zusammenfassung
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 P55L mutation of the CaSR, as well as the first publication discussing the effect of this mutation on several endocrine systems containing CASR.
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