التفاصيل البيبلوغرافية
| العنوان: |
Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS) |
| المؤلفون: |
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 |
| المصدر: |
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018) |
| بيانات النشر: |
BMC, 2018. |
| سنة النشر: |
2018 |
| المجموعة: |
LCC:Medicine |
| مصطلحات موضوعية: |
Causes of death, Diagnosis, Hernia repair, Hunter syndrome, Lysosomal storage disease, Surgery, Medicine |
| الوصف: |
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. |
| نوع الوثيقة: |
article |
| وصف الملف: |
electronic resource |
| اللغة: |
English |
| تدمد: |
1750-1172 |
| Relation: |
http://link.springer.com/article/10.1186/s13023-018-0827-1; https://doaj.org/toc/1750-1172 |
| DOI: |
10.1186/s13023-018-0827-1 |
| URL الوصول: |
https://doaj.org/article/197cc48748754d22822637d1efd4bec9 |
| رقم الانضمام: |
edsdoj.197cc48748754d22822637d1efd4bec9 |
| قاعدة البيانات: |
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