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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...

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Autores principales: Lipiński, Patryk, Stępień, Karolina M., Ciara, Elżbieta, Tylki-Szymańska, Anna, Jezela-Stanek, Aleksandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
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.
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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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