Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA

Orphanet Journal of Rare Diseases

Shuan-Pei Lin⁸  Ju-Li Lin⁴  Wuh-Liang Hwu¹  Fuu-Jen Tsai⁵  Dau-Ming Niu⁷  Yu-Yuan Ke⁶  Pao Chin Chiu²  Ming-Ren Chen⁸  Chih-Kuang Chuang³  Hsiang-Yu Lin⁷ 

[1] Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan;Department of Pediatrics, Kaohsiung Veterans General Hospital, Kaohsiung, Taiwan;Institute of Biotechnology, National Taipei University of Technology, Taipei, Taiwan;Division of Medical Genetics, Department of Pediatrics, Chang Gung Children’s Hospital, Taoyuan, Taiwan;Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan;Department of Pediatrics, Taichung Veterans General Hospital, Taichung, Taiwan;Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan;Mackay Junior College of Medicine, Nursing, and Management, Taipei, Taiwan

关键词: Mucopolysaccharidosis IVA;    Management;    History;    Diagnosis;    Clinical manifestations;   

Others  :  863255
DOI  :  10.1186/1750-1172-9-21

 received in 2013-11-30, accepted in 2014-02-06,  发布年份 2014

【 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.

【 授权许可】

   
2014 Lin et al.; licensee BioMed Central Ltd.

【 图 表 】

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