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Atypical skeletal manifestations of rickets in a familial hypocalciuric hypercalcemia patient
Familial hypocalciuric hypercalcemia (FHH) is caused by inactivating mutations in the calcium-sensing receptor (CaSR) gene. The loss of function of CaSR presents with rickets as the predominant skeletal abnormality in mice, but is rarely reported in humans. Here we report a case of a 16-year-old boy...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5486235/ https://www.ncbi.nlm.nih.gov/pubmed/28690912 http://dx.doi.org/10.1038/boneres.2017.1 |
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author | Wu, Bo Wang, Ou Jiang, Yan Li, Mei Xing, Xiaoping Xia, Weibo |
author_facet | Wu, Bo Wang, Ou Jiang, Yan Li, Mei Xing, Xiaoping Xia, Weibo |
author_sort | Wu, Bo |
collection | PubMed |
description | Familial hypocalciuric hypercalcemia (FHH) is caused by inactivating mutations in the calcium-sensing receptor (CaSR) gene. The loss of function of CaSR presents with rickets as the predominant skeletal abnormality in mice, but is rarely reported in humans. Here we report a case of a 16-year-old boy with FHH who presented with skeletal manifestations of rickets. To identify the possible pathogenic mutation, the patient was evaluated clinically, biochemically, and radiographically. The patient and his family members were screened for genetic mutations. Physical examination revealed a pigeon breast deformity and X-ray examinations showed epiphyseal broadening, both of which indicate rickets. Biochemical tests also showed increased parathyroid hormone (PTH), 1,25-dihydroxyvitamin D, and elevated ionized calcium. Based on these results, a diagnosis of FHH was suspected. Sequence analysis of the patient’s CaSR gene revealed a new missense mutation (c.2279T>A) in exon 7, leading to the damaging amino change (p.I760N) in the mature CaSR protein, confirming the diagnosis of FHH. Moreover, the skeletal abnormities may be related to but not limited to vitamin D abnormity. Elevated PTH levels and a rapid skeletal growth period in adolescence may have also contributed. Our study revealed that rickets-like features have a tendency to present atypically in FHH patients who have a mild vitamin D deficiency, and that CaSR mutations may have a partial role in the pathogenesis of skeletal deformities. |
format | Online Article Text |
id | pubmed-5486235 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Nature Publishing Group |
record_format | MEDLINE/PubMed |
spelling | pubmed-54862352017-07-07 Atypical skeletal manifestations of rickets in a familial hypocalciuric hypercalcemia patient Wu, Bo Wang, Ou Jiang, Yan Li, Mei Xing, Xiaoping Xia, Weibo Bone Res Article Familial hypocalciuric hypercalcemia (FHH) is caused by inactivating mutations in the calcium-sensing receptor (CaSR) gene. The loss of function of CaSR presents with rickets as the predominant skeletal abnormality in mice, but is rarely reported in humans. Here we report a case of a 16-year-old boy with FHH who presented with skeletal manifestations of rickets. To identify the possible pathogenic mutation, the patient was evaluated clinically, biochemically, and radiographically. The patient and his family members were screened for genetic mutations. Physical examination revealed a pigeon breast deformity and X-ray examinations showed epiphyseal broadening, both of which indicate rickets. Biochemical tests also showed increased parathyroid hormone (PTH), 1,25-dihydroxyvitamin D, and elevated ionized calcium. Based on these results, a diagnosis of FHH was suspected. Sequence analysis of the patient’s CaSR gene revealed a new missense mutation (c.2279T>A) in exon 7, leading to the damaging amino change (p.I760N) in the mature CaSR protein, confirming the diagnosis of FHH. Moreover, the skeletal abnormities may be related to but not limited to vitamin D abnormity. Elevated PTH levels and a rapid skeletal growth period in adolescence may have also contributed. Our study revealed that rickets-like features have a tendency to present atypically in FHH patients who have a mild vitamin D deficiency, and that CaSR mutations may have a partial role in the pathogenesis of skeletal deformities. Nature Publishing Group 2017-06-27 /pmc/articles/PMC5486235/ /pubmed/28690912 http://dx.doi.org/10.1038/boneres.2017.1 Text en Copyright © 2017 The Author(s) http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ |
spellingShingle | Article Wu, Bo Wang, Ou Jiang, Yan Li, Mei Xing, Xiaoping Xia, Weibo Atypical skeletal manifestations of rickets in a familial hypocalciuric hypercalcemia patient |
title | Atypical skeletal manifestations of rickets in a familial hypocalciuric hypercalcemia patient |
title_full | Atypical skeletal manifestations of rickets in a familial hypocalciuric hypercalcemia patient |
title_fullStr | Atypical skeletal manifestations of rickets in a familial hypocalciuric hypercalcemia patient |
title_full_unstemmed | Atypical skeletal manifestations of rickets in a familial hypocalciuric hypercalcemia patient |
title_short | Atypical skeletal manifestations of rickets in a familial hypocalciuric hypercalcemia patient |
title_sort | atypical skeletal manifestations of rickets in a familial hypocalciuric hypercalcemia patient |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5486235/ https://www.ncbi.nlm.nih.gov/pubmed/28690912 http://dx.doi.org/10.1038/boneres.2017.1 |
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