Speer, G. and Toth, M. and Niller, Hans Helmut and Salamon, Daniel and Takacs, I. and Miheller, P. and Patocs, A. and Nagy, Z. and Bajnok, E. and Nyiri, P. and Lakatos, P. (2003) Calcium metabolism and endocrine functions in a family with familial hypocalciuric hypercalcemia. EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES, 111 (8). pp. 486-490. ISSN 0947-7349, 1439-3646
Full text not available from this repository. (Request a copy)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 P55L mutation of the CaSR, as well as the first publication discussing the effect of this mutation on several endocrine systems containing CASR.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | CA2+-SENSING RECEPTOR GENE; NEONATAL SEVERE HYPERPARATHYROIDISM; SENSING RECEPTOR; BENIGN HYPERCALCEMIA; DIABETES-MELLITUS; MUTATIONS; EXPRESSION; DISEASE; calcium-sensing receptor; familial hypocalciuric hypercalcemia; calcium metabolism |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Medizinische Mikrobiologie und Hygiene |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 27 Aug 2021 06:47 |
| Last Modified: | 27 Aug 2021 06:47 |
| URI: | https://pred.uni-regensburg.de/id/eprint/38343 |
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