Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS)
Abstract 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, sig...
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doaj-197cc48748754d22822637d1efd4bec92020-11-25T02:36:02ZengBMCOrphanet Journal of Rare Diseases1750-11722018-06-0113111010.1186/s13023-018-0827-1Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS)Hsiang-Yu Lin0Chih-Kuang Chuang1Ming-Ren Chen2Shio Jean Lin3Pao Chin Chiu4Dau-Ming Niu5Fuu-Jen Tsai6Wuh-Liang Hwu7Yin-Hsiu Chien8Ju-Li Lin9Shuan-Pei Lin10Department of Medicine, Mackay Medical CollegeDepartment of Medical Research, Mackay Memorial HospitalDepartment of Medicine, Mackay Medical CollegeDepartment of Pediatrics, Chi Mei Medical CenterDepartment of Pediatrics, National Yang-Ming UniversityInstitute of Clinical Medicine, National Yang-Ming UniversityDepartment of Pediatrics, China Medical University HospitalDepartment of Pediatrics, National Taiwan University HospitalDepartment of Pediatrics, National Taiwan University HospitalDivision of Genetics and Endocrinology, Department of Pediatrics, Chang Gung University College of Medicine and Chang Gung Children’s and Memorial HospitalDepartment of Medicine, Mackay Medical CollegeAbstract 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.http://link.springer.com/article/10.1186/s13023-018-0827-1Causes of deathDiagnosisHernia repairHunter syndromeLysosomal storage diseaseSurgery |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Hsiang-Yu Lin Chih-Kuang Chuang Ming-Ren Chen Shio Jean Lin Pao Chin Chiu Dau-Ming Niu Fuu-Jen Tsai Wuh-Liang Hwu Yin-Hsiu Chien Ju-Li Lin Shuan-Pei Lin |
spellingShingle |
Hsiang-Yu Lin Chih-Kuang Chuang Ming-Ren Chen Shio Jean Lin Pao Chin Chiu Dau-Ming Niu Fuu-Jen Tsai Wuh-Liang Hwu Yin-Hsiu Chien Ju-Li Lin Shuan-Pei Lin Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS) Orphanet Journal of Rare Diseases Causes of death Diagnosis Hernia repair Hunter syndrome Lysosomal storage disease Surgery |
author_facet |
Hsiang-Yu Lin Chih-Kuang Chuang Ming-Ren Chen Shio Jean Lin Pao Chin Chiu Dau-Ming Niu Fuu-Jen Tsai Wuh-Liang Hwu Yin-Hsiu Chien Ju-Li Lin Shuan-Pei Lin |
author_sort |
Hsiang-Yu Lin |
title |
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_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_sort |
clinical characteristics and surgical history of taiwanese patients with mucopolysaccharidosis type ii: data from the hunter outcome survey (hos) |
publisher |
BMC |
series |
Orphanet Journal of Rare Diseases |
issn |
1750-1172 |
publishDate |
2018-06-01 |
description |
Abstract 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. |
topic |
Causes of death Diagnosis Hernia repair Hunter syndrome Lysosomal storage disease Surgery |
url |
http://link.springer.com/article/10.1186/s13023-018-0827-1 |
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