Calcium metabolism and endocrine functions in a family with familial hypocalciuric hypercalcemia

被引：4
作者：
Speer, G
Tóth, M
Niller, HH
Salamon, D
Takács, I
Miheller, P
Patócs, A
Nagy, Z
Bajnok, É
Nyiri, P
Lakatos, P
机构：
[1] Semmelweis Univ, Fac Med, Dept Med 1, H-1083 Budapest, Hungary
[2] Semmelweis Univ, Fac Med, Dept Med 2, H-1083 Budapest, Hungary
[3] Univ Regensburg, Dept Microbiol, D-8400 Regensburg, Germany
[4] Semmelweis Univ, Fac Med, Dept Orthopaed, H-1085 Budapest, Hungary
来源：
EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES | 2003年 / 111卷 / 08期
关键词：
calcium-sensing receptor; familial hypocalciuric hypercalcemia; calcium metabolism;
D O I：
10.1055/s-2003-44708
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
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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收藏
页码：486 / 490
页数：5
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