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.

• Authors: G Speer, M Tóth, H-H Niller, D Salamon, I Takács, P Miheller, A Patócs, Z Nagy, E Bajnok, P Nyiri, P Lakatos
• Journal: Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association (Exp Clin Endocrinol Diabetes) Vol. 111 Issue 8 Pg. 486-90 (Dec 2003) ISSN: 0947-7349 [Print] Germany
• PMID: 14714270 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Codon
• Receptors, Calcium-Sensing
• Calcium

Topics

• Adult
• Base Sequence
• Bone Density
• Calcium (metabolism, urine)
• Codon
• Endocrine Glands (physiopathology)
• Female
• Genes, Dominant
• Heterozygote
• Humans
• Hypercalcemia (genetics, metabolism, physiopathology, urine)
• Male
• Middle Aged
• Mutation
• Receptors, Calcium-Sensing (genetics)