https://scholars.lib.ntu.edu.tw/handle/123456789/525862
標題: | Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA | 作者: | Lin H.-Y. Chuang C.-K. Chen M.-R. Chiu P.C. Ke Y.-Y. Niu D.-M. Tsai F.-J. WUH-LIANG HWU Lin J.-L. Lin S.-P. |
關鍵字: | Clinical manifestations; Diagnosis; History; Management; Mucopolysaccharidosis IVA | 公開日期: | 2014 | 卷: | 9 | 期: | 1 | 起(迄)頁: | 21 | 來源出版物: | Orphanet Journal of Rare Diseases | 摘要: | Background: Mucopolysaccharidosis IVA (MPS IVA) is a rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase deficiency, which catalyzes a step in the catabolism of glycosaminoglycans, keratan sulfate and chondroitin-6-sulfate. This disease has a variable age of onset and rate of progression. Methods. A retrospective analysis of medical records of 24 patients with MPS IVA (11 males, 13 females; current mean age ± SD, 12.6 ± 6.6 years; age range, 1.4-29.4 years) seen at 6 medical centers in Taiwan from January 1996 through June 2013 was performed. Results: Mean ages of onset of symptoms and confirmed diagnosis were 2.0 ± 1.6 and 5.7 ± 4.5 years, respectively. The most prevalent clinical manifestations were kyphosis (100%), pectus carinatum (96%), abnormal gait (93%), striking short trunk dwarfism (92%), genu valgum (92%), and valvular heart disease (91%). Eight patients (33%) experienced at least one surgical procedure with the most common being ear tube insertion (25%), adenoidectomy (17%), tonsillectomy (13%), supraglottoplasty (13%), spinal decompression (13%), and spinal fusion (13%). The most prevalent cardiac valve abnormalities were aortic stenosis (45%) and mitral regurgitation (45%). At the time of the study, 8 out of 24 patients (33%) have died at the mean age of 17.2 ± 7.7 years. Conclusions: An understanding of the natural history involved in MPS IVA may allow early diagnosis of the disease. All affected Taiwanese patients experienced significant functional limitations. Adequate evaluations and timely management may improve clinical outcomes and quality of life. ? 2014 Lin et al.; licensee BioMed Central Ltd. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-84893643796&doi=10.1186%2f1750-1172-9-21&partnerID=40&md5=075730d2bfe4658d63adffdaa41c28ba https://scholars.lib.ntu.edu.tw/handle/123456789/525862 |
ISSN: | 1750-1172 | DOI: | 10.1186/1750-1172-9-21 | SDG/關鍵字: | Adolescent; Adult; Child; Child, Preschool; Female; Humans; Infant; Male; Mucopolysaccharidosis IV; Retrospective Studies; Young Adult |
顯示於: | 醫學系 |
在 IR 系統中的文件,除了特別指名其著作權條款之外,均受到著作權保護,並且保留所有的權利。