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

Gábor Speer, M. Tóth, H. H. Niller, D. Salamon, I. Takács, P. Miheller, A. Patócs, Z. Nagy, É Bajnok, P. Nyiri, P. Lakatos

Research output: Contribution to journalArticle

7 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)486-490
Number of pages5
JournalExperimental and Clinical Endocrinology and Diabetes
Volume111
Issue number8
DOIs
Publication statusPublished - Dec 1 2003

Keywords

  • Calcium metabolism
  • Calcium-sensing receptor
  • Familial hypocalciuric hypercalcemia

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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