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Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment

Mucopolysaccharidosis type II (MPS II, Hunter syndrome) was first described by Dr. Charles Hunter in 1917. Since then, about one hundred years have passed and Hunter syndrome, although at first neglected for a few decades and afterwards mistaken for a long time for the similar disorder Hurler syndro...

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Autores principales: D’Avanzo, Francesca, Rigon, Laura, Zanetti, Alessandra, Tomanin, Rosella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7072947/
https://www.ncbi.nlm.nih.gov/pubmed/32070051
http://dx.doi.org/10.3390/ijms21041258
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author D’Avanzo, Francesca
Rigon, Laura
Zanetti, Alessandra
Tomanin, Rosella
author_facet D’Avanzo, Francesca
Rigon, Laura
Zanetti, Alessandra
Tomanin, Rosella
author_sort D’Avanzo, Francesca
collection PubMed
description Mucopolysaccharidosis type II (MPS II, Hunter syndrome) was first described by Dr. Charles Hunter in 1917. Since then, about one hundred years have passed and Hunter syndrome, although at first neglected for a few decades and afterwards mistaken for a long time for the similar disorder Hurler syndrome, has been clearly distinguished as a specific disease since 1978, when the distinct genetic causes of the two disorders were finally identified. MPS II is a rare genetic disorder, recently described as presenting an incidence rate ranging from 0.38 to 1.09 per 100,000 live male births, and it is the only X-linked-inherited mucopolysaccharidosis. The complex disease is due to a deficit of the lysosomal hydrolase iduronate 2-sulphatase, which is a crucial enzyme in the stepwise degradation of heparan and dermatan sulphate. This contributes to a heavy clinical phenotype involving most organ-systems, including the brain, in at least two-thirds of cases. In this review, we will summarize the history of the disease during this century through clinical and laboratory evaluations that allowed its definition, its correct diagnosis, a partial comprehension of its pathogenesis, and the proposition of therapeutic protocols. We will also highlight the main open issues related to the possible inclusion of MPS II in newborn screenings, the comprehension of brain pathogenesis, and treatment of the neurological compartment.
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spelling pubmed-70729472020-03-19 Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment D’Avanzo, Francesca Rigon, Laura Zanetti, Alessandra Tomanin, Rosella Int J Mol Sci Review Mucopolysaccharidosis type II (MPS II, Hunter syndrome) was first described by Dr. Charles Hunter in 1917. Since then, about one hundred years have passed and Hunter syndrome, although at first neglected for a few decades and afterwards mistaken for a long time for the similar disorder Hurler syndrome, has been clearly distinguished as a specific disease since 1978, when the distinct genetic causes of the two disorders were finally identified. MPS II is a rare genetic disorder, recently described as presenting an incidence rate ranging from 0.38 to 1.09 per 100,000 live male births, and it is the only X-linked-inherited mucopolysaccharidosis. The complex disease is due to a deficit of the lysosomal hydrolase iduronate 2-sulphatase, which is a crucial enzyme in the stepwise degradation of heparan and dermatan sulphate. This contributes to a heavy clinical phenotype involving most organ-systems, including the brain, in at least two-thirds of cases. In this review, we will summarize the history of the disease during this century through clinical and laboratory evaluations that allowed its definition, its correct diagnosis, a partial comprehension of its pathogenesis, and the proposition of therapeutic protocols. We will also highlight the main open issues related to the possible inclusion of MPS II in newborn screenings, the comprehension of brain pathogenesis, and treatment of the neurological compartment. MDPI 2020-02-13 /pmc/articles/PMC7072947/ /pubmed/32070051 http://dx.doi.org/10.3390/ijms21041258 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 Review
D’Avanzo, Francesca
Rigon, Laura
Zanetti, Alessandra
Tomanin, Rosella
Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment
title Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment
title_full Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment
title_fullStr Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment
title_full_unstemmed Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment
title_short Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment
title_sort mucopolysaccharidosis type ii: one hundred years of research, diagnosis, and treatment
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7072947/
https://www.ncbi.nlm.nih.gov/pubmed/32070051
http://dx.doi.org/10.3390/ijms21041258
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