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Respiratory Dysfunction in Children and Adolescents with Mucopolysaccharidosis Types I, II, IVA, and VI
Mucopolysaccharidosis (MPS) is a rare genetic disease involving active storage of glycosaminoglycans (GAGs). Accumulation of GAGs in the connective tissues of airways leads to progressive pulmonary dysfunction. Studies conducted in Taiwan revealed mainly restrictive pulmonary dysfunction, whereas th...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7168931/ https://www.ncbi.nlm.nih.gov/pubmed/31991612 http://dx.doi.org/10.3390/diagnostics10020063 |
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author | Tulebayeva, Assel Sharipova, Maira Boranbayeva, Riza |
author_facet | Tulebayeva, Assel Sharipova, Maira Boranbayeva, Riza |
author_sort | Tulebayeva, Assel |
collection | PubMed |
description | Mucopolysaccharidosis (MPS) is a rare genetic disease involving active storage of glycosaminoglycans (GAGs). Accumulation of GAGs in the connective tissues of airways leads to progressive pulmonary dysfunction. Studies conducted in Taiwan revealed mainly restrictive pulmonary dysfunction, whereas the same studies in Egypt and California revealed obstructive pulmonary dysfunction. The contradictory results and lack of studies of respiratory system in patients with MPS in Asian populations are an indication to study pulmonary impairment in patients with MPS in Kazakhstan. The prospective study of respiratory system in patients with MPS was conducted in the Scientific Centre of Paediatrics and Paediatric Surgery. Patients with MPS (n = 11) were examined for respiratory function. Different types of pulmonary dysfunction were present in MPS patients, they were mainly of a restrictive pathology. One patient with MPS II had obstructive dysfunction. Enzyme replacement therapy was provided for an average duration of four years, leading to improvements in respiratory function in two patients with total normalization in one. All observed patients had respiratory dysfunction, mainly of the restrictive type. Pulmonary impairment in patients with MPS is the main reason for death. Thus, it is necessary to follow up with pulmonary function assessments in children with MPS. |
format | Online Article Text |
id | pubmed-7168931 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-71689312020-04-20 Respiratory Dysfunction in Children and Adolescents with Mucopolysaccharidosis Types I, II, IVA, and VI Tulebayeva, Assel Sharipova, Maira Boranbayeva, Riza Diagnostics (Basel) Article Mucopolysaccharidosis (MPS) is a rare genetic disease involving active storage of glycosaminoglycans (GAGs). Accumulation of GAGs in the connective tissues of airways leads to progressive pulmonary dysfunction. Studies conducted in Taiwan revealed mainly restrictive pulmonary dysfunction, whereas the same studies in Egypt and California revealed obstructive pulmonary dysfunction. The contradictory results and lack of studies of respiratory system in patients with MPS in Asian populations are an indication to study pulmonary impairment in patients with MPS in Kazakhstan. The prospective study of respiratory system in patients with MPS was conducted in the Scientific Centre of Paediatrics and Paediatric Surgery. Patients with MPS (n = 11) were examined for respiratory function. Different types of pulmonary dysfunction were present in MPS patients, they were mainly of a restrictive pathology. One patient with MPS II had obstructive dysfunction. Enzyme replacement therapy was provided for an average duration of four years, leading to improvements in respiratory function in two patients with total normalization in one. All observed patients had respiratory dysfunction, mainly of the restrictive type. Pulmonary impairment in patients with MPS is the main reason for death. Thus, it is necessary to follow up with pulmonary function assessments in children with MPS. MDPI 2020-01-24 /pmc/articles/PMC7168931/ /pubmed/31991612 http://dx.doi.org/10.3390/diagnostics10020063 Text en © 2020 by the authors. 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 (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Tulebayeva, Assel Sharipova, Maira Boranbayeva, Riza Respiratory Dysfunction in Children and Adolescents with Mucopolysaccharidosis Types I, II, IVA, and VI |
title | Respiratory Dysfunction in Children and Adolescents with Mucopolysaccharidosis Types I, II, IVA, and VI |
title_full | Respiratory Dysfunction in Children and Adolescents with Mucopolysaccharidosis Types I, II, IVA, and VI |
title_fullStr | Respiratory Dysfunction in Children and Adolescents with Mucopolysaccharidosis Types I, II, IVA, and VI |
title_full_unstemmed | Respiratory Dysfunction in Children and Adolescents with Mucopolysaccharidosis Types I, II, IVA, and VI |
title_short | Respiratory Dysfunction in Children and Adolescents with Mucopolysaccharidosis Types I, II, IVA, and VI |
title_sort | respiratory dysfunction in children and adolescents with mucopolysaccharidosis types i, ii, iva, and vi |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7168931/ https://www.ncbi.nlm.nih.gov/pubmed/31991612 http://dx.doi.org/10.3390/diagnostics10020063 |
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