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Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the hunter outcome survey (HOS)
BACKGROUND: Mucopolysaccharidosis type II (MPS II) is the most frequently occurring MPS in Taiwan, with an incidence of 2.05 per 100,000 live male births, but little is known about clinical characteristics and surgical history in Taiwanese patients. METHODS: Medical history, demographics, signs and...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5987665/ https://www.ncbi.nlm.nih.gov/pubmed/29866148 http://dx.doi.org/10.1186/s13023-018-0827-1 |
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author | Lin, Hsiang-Yu Chuang, Chih-Kuang Chen, Ming-Ren Lin, Shio Jean Chiu, Pao Chin Niu, Dau-Ming Tsai, Fuu-Jen Hwu, Wuh-Liang Chien, Yin-Hsiu Lin, Ju-Li Lin, Shuan-Pei |
author_facet | Lin, Hsiang-Yu Chuang, Chih-Kuang Chen, Ming-Ren Lin, Shio Jean Chiu, Pao Chin Niu, Dau-Ming Tsai, Fuu-Jen Hwu, Wuh-Liang Chien, Yin-Hsiu Lin, Ju-Li Lin, Shuan-Pei |
author_sort | Lin, Hsiang-Yu |
collection | PubMed |
description | BACKGROUND: Mucopolysaccharidosis type II (MPS II) is the most frequently occurring MPS in Taiwan, with an incidence of 2.05 per 100,000 live male births, but little is known about clinical characteristics and surgical history in Taiwanese patients. METHODS: Medical history, demographics, signs and symptoms, and surgical history were analysed in all patients from Taiwanese centres in the Hunter Outcome Survey (HOS; NCT 03292887), a global, multicentre registry that collects real-world data on patients with MPS II. RESULTS: As of January 2016, 61 male Taiwanese patients were enrolled; 49% (24/49) had received at least one infusion of idursulfase. Median (10th, 90th percentiles) ages at signs and symptom onset and at diagnosis were 2.5 (0.2, 5.5) years (n = 55) and 3.5 (1.2, 11.9) years (n = 56), respectively. Hernia, facial features consistent with MPS II and claw hands were the earliest presenting signs and symptoms (median ages of 3.2 [0.4, 12.0] years, 4.3 [1.1, 12.0] years and 4.7 [2.5, 12.2] years [n = 45, 53 and 50], respectively). More than 75% of patients had undergone a surgical procedure, most commonly hernia repair (57% of patients). Median age at first surgery for hernia repair was 4.2 (0.5, 9.8) years (n = 35). Almost one-third (31.1%) of patients had at least one surgical procedure before diagnosis, and of the 20 procedures before diagnosis, 16 were hernia repair. CONCLUSIONS: This information from patients in HOS highlights the importance of both medical and surgical history in diagnosing MPS II in Taiwanese patients. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s13023-018-0827-1) contains supplementary material, which is available to authorized users. |
format | Online Article Text |
id | pubmed-5987665 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-59876652018-06-20 Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the hunter outcome survey (HOS) Lin, Hsiang-Yu Chuang, Chih-Kuang Chen, Ming-Ren Lin, Shio Jean Chiu, Pao Chin Niu, Dau-Ming Tsai, Fuu-Jen Hwu, Wuh-Liang Chien, Yin-Hsiu Lin, Ju-Li Lin, Shuan-Pei Orphanet J Rare Dis Research BACKGROUND: Mucopolysaccharidosis type II (MPS II) is the most frequently occurring MPS in Taiwan, with an incidence of 2.05 per 100,000 live male births, but little is known about clinical characteristics and surgical history in Taiwanese patients. METHODS: Medical history, demographics, signs and symptoms, and surgical history were analysed in all patients from Taiwanese centres in the Hunter Outcome Survey (HOS; NCT 03292887), a global, multicentre registry that collects real-world data on patients with MPS II. RESULTS: As of January 2016, 61 male Taiwanese patients were enrolled; 49% (24/49) had received at least one infusion of idursulfase. Median (10th, 90th percentiles) ages at signs and symptom onset and at diagnosis were 2.5 (0.2, 5.5) years (n = 55) and 3.5 (1.2, 11.9) years (n = 56), respectively. Hernia, facial features consistent with MPS II and claw hands were the earliest presenting signs and symptoms (median ages of 3.2 [0.4, 12.0] years, 4.3 [1.1, 12.0] years and 4.7 [2.5, 12.2] years [n = 45, 53 and 50], respectively). More than 75% of patients had undergone a surgical procedure, most commonly hernia repair (57% of patients). Median age at first surgery for hernia repair was 4.2 (0.5, 9.8) years (n = 35). Almost one-third (31.1%) of patients had at least one surgical procedure before diagnosis, and of the 20 procedures before diagnosis, 16 were hernia repair. CONCLUSIONS: This information from patients in HOS highlights the importance of both medical and surgical history in diagnosing MPS II in Taiwanese patients. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s13023-018-0827-1) contains supplementary material, which is available to authorized users. BioMed Central 2018-06-04 /pmc/articles/PMC5987665/ /pubmed/29866148 http://dx.doi.org/10.1186/s13023-018-0827-1 Text en © The Author(s). 2018 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Research Lin, Hsiang-Yu Chuang, Chih-Kuang Chen, Ming-Ren Lin, Shio Jean Chiu, Pao Chin Niu, Dau-Ming Tsai, Fuu-Jen Hwu, Wuh-Liang Chien, Yin-Hsiu Lin, Ju-Li Lin, Shuan-Pei Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the hunter outcome survey (HOS) |
title | Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the hunter outcome survey (HOS) |
title_full | Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the hunter outcome survey (HOS) |
title_fullStr | Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the hunter outcome survey (HOS) |
title_full_unstemmed | Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the hunter outcome survey (HOS) |
title_short | Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the hunter outcome survey (HOS) |
title_sort | clinical characteristics and surgical history of taiwanese patients with mucopolysaccharidosis type ii: data from the hunter outcome survey (hos) |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5987665/ https://www.ncbi.nlm.nih.gov/pubmed/29866148 http://dx.doi.org/10.1186/s13023-018-0827-1 |
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