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Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review
Congenital disorders of glycosylation (CDGs) are a heterogeneous group of disorders with impaired glycosylation of proteins and lipids. These conditions have multisystemic clinical manifestations, resulting in gradually progressive complications including skeletal involvement and reduced bone minera...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8391432/ https://www.ncbi.nlm.nih.gov/pubmed/34441372 http://dx.doi.org/10.3390/diagnostics11081438 |
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author | Lipiński, Patryk Stępień, Karolina M. Ciara, Elżbieta Tylki-Szymańska, Anna Jezela-Stanek, Aleksandra |
author_facet | Lipiński, Patryk Stępień, Karolina M. Ciara, Elżbieta Tylki-Szymańska, Anna Jezela-Stanek, Aleksandra |
author_sort | Lipiński, Patryk |
collection | PubMed |
description | Congenital disorders of glycosylation (CDGs) are a heterogeneous group of disorders with impaired glycosylation of proteins and lipids. These conditions have multisystemic clinical manifestations, resulting in gradually progressive complications including skeletal involvement and reduced bone mineral density. Contrary to PMM2-CDG, all remaining CDG, including ALG12-CDG, ALG3-CDG, ALG9-CDG, ALG6-CDG, PGM3-CDG, CSGALNACT1-CDG, SLC35D1-CDG and TMEM-165, are characterized by well-defined skeletal dysplasia. In some of them, prenatal-onset severe skeletal dysplasia is observed associated with early death. Osteoporosis or osteopenia are frequently observed in all CDG types and are more pronounced in adults. Hormonal dysfunction, limited mobility and inadequate diet are common risk factors for reduced bone mineral density. Skeletal involvement in CDGs is underestimated and, thus, should always be carefully investigated and managed to prevent fractures and chronic pain. With the advent of new therapeutic developments for CDGs, the severity of skeletal complications may be reduced. This review focuses on possible mechanisms of skeletal manifestations, risk factors for osteoporosis, and bone markers in reported paediatric and adult CDG patients. |
format | Online Article Text |
id | pubmed-8391432 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-83914322021-08-28 Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review Lipiński, Patryk Stępień, Karolina M. Ciara, Elżbieta Tylki-Szymańska, Anna Jezela-Stanek, Aleksandra Diagnostics (Basel) Review Congenital disorders of glycosylation (CDGs) are a heterogeneous group of disorders with impaired glycosylation of proteins and lipids. These conditions have multisystemic clinical manifestations, resulting in gradually progressive complications including skeletal involvement and reduced bone mineral density. Contrary to PMM2-CDG, all remaining CDG, including ALG12-CDG, ALG3-CDG, ALG9-CDG, ALG6-CDG, PGM3-CDG, CSGALNACT1-CDG, SLC35D1-CDG and TMEM-165, are characterized by well-defined skeletal dysplasia. In some of them, prenatal-onset severe skeletal dysplasia is observed associated with early death. Osteoporosis or osteopenia are frequently observed in all CDG types and are more pronounced in adults. Hormonal dysfunction, limited mobility and inadequate diet are common risk factors for reduced bone mineral density. Skeletal involvement in CDGs is underestimated and, thus, should always be carefully investigated and managed to prevent fractures and chronic pain. With the advent of new therapeutic developments for CDGs, the severity of skeletal complications may be reduced. This review focuses on possible mechanisms of skeletal manifestations, risk factors for osteoporosis, and bone markers in reported paediatric and adult CDG patients. MDPI 2021-08-09 /pmc/articles/PMC8391432/ /pubmed/34441372 http://dx.doi.org/10.3390/diagnostics11081438 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Lipiński, Patryk Stępień, Karolina M. Ciara, Elżbieta Tylki-Szymańska, Anna Jezela-Stanek, Aleksandra Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review |
title | Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review |
title_full | Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review |
title_fullStr | Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review |
title_full_unstemmed | Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review |
title_short | Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review |
title_sort | skeletal and bone mineral density features, genetic profile in congenital disorders of glycosylation: review |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8391432/ https://www.ncbi.nlm.nih.gov/pubmed/34441372 http://dx.doi.org/10.3390/diagnostics11081438 |
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