Osteopetrorickets Presenting with Failure to Thrive and Hypophosphatemia
Osteopetrosis is a rare group of bone disorders characterized by defective osteoclast bone resorption causing high bone mineral density. A high bone mineral density in combination with defective skeletal mineralization results in a phenotype of osteopetrorickets. We present a rare presentation of in...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Oxford University Press
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7255499/ https://www.ncbi.nlm.nih.gov/pubmed/32500110 http://dx.doi.org/10.1210/jendso/bvaa044 |
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author | Freese, Jurhee Greenup, Erin Sunil, Bhuvana Ashraf, Ambika P |
author_facet | Freese, Jurhee Greenup, Erin Sunil, Bhuvana Ashraf, Ambika P |
author_sort | Freese, Jurhee |
collection | PubMed |
description | Osteopetrosis is a rare group of bone disorders characterized by defective osteoclast bone resorption causing high bone mineral density. A high bone mineral density in combination with defective skeletal mineralization results in a phenotype of osteopetrorickets. We present a rare presentation of infantile osteopetrorickets in an 8-week-old female who presented with failure to thrive, hypophosphatemia, anemia, and thrombocytopenia. A skeletal survey showed increased bone density with rachitic changes. She was found to have a homozygous T-cell immune regulator 1 (TCIRG1) pathogenic mutation consistent with osteopetrosis. This highlights the importance of a clinical suspicion of osteopetrosis with this symptom constellation. |
format | Online Article Text |
id | pubmed-7255499 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-72554992020-06-03 Osteopetrorickets Presenting with Failure to Thrive and Hypophosphatemia Freese, Jurhee Greenup, Erin Sunil, Bhuvana Ashraf, Ambika P J Endocr Soc Case Reports Osteopetrosis is a rare group of bone disorders characterized by defective osteoclast bone resorption causing high bone mineral density. A high bone mineral density in combination with defective skeletal mineralization results in a phenotype of osteopetrorickets. We present a rare presentation of infantile osteopetrorickets in an 8-week-old female who presented with failure to thrive, hypophosphatemia, anemia, and thrombocytopenia. A skeletal survey showed increased bone density with rachitic changes. She was found to have a homozygous T-cell immune regulator 1 (TCIRG1) pathogenic mutation consistent with osteopetrosis. This highlights the importance of a clinical suspicion of osteopetrosis with this symptom constellation. Oxford University Press 2020-04-28 /pmc/articles/PMC7255499/ /pubmed/32500110 http://dx.doi.org/10.1210/jendso/bvaa044 Text en © Endocrine Society 2020. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs licence (http://creativecommons.org/licenses/by-nc-nd/4.0/), which permits non-commercial reproduction and distribution of the work, in any medium, provided the original work is not altered or transformed in any way, and that the work is properly cited. For commercial re-use, please contact journals.permissions@oup.com |
spellingShingle | Case Reports Freese, Jurhee Greenup, Erin Sunil, Bhuvana Ashraf, Ambika P Osteopetrorickets Presenting with Failure to Thrive and Hypophosphatemia |
title | Osteopetrorickets Presenting with Failure to Thrive and Hypophosphatemia |
title_full | Osteopetrorickets Presenting with Failure to Thrive and Hypophosphatemia |
title_fullStr | Osteopetrorickets Presenting with Failure to Thrive and Hypophosphatemia |
title_full_unstemmed | Osteopetrorickets Presenting with Failure to Thrive and Hypophosphatemia |
title_short | Osteopetrorickets Presenting with Failure to Thrive and Hypophosphatemia |
title_sort | osteopetrorickets presenting with failure to thrive and hypophosphatemia |
topic | Case Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7255499/ https://www.ncbi.nlm.nih.gov/pubmed/32500110 http://dx.doi.org/10.1210/jendso/bvaa044 |
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