Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA

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• 作者：Hsiang-Yu Lin (1) (2) (3) (4) (5)
  Chih-Kuang Chuang (3) (6) (7)
  Ming-Ren Chen (1) (2) (4)
  Pao Chin Chiu (8)
  Yu-Yuan Ke (9)
  Dau-Ming Niu (10) (5)
  Fuu-Jen Tsai (11)
  Wuh-Liang Hwu (12)
  Ju-Li Lin (13)
  Shuan-Pei Lin (1) (14) (2) (3) (4)
  
• 关键词：Clinical manifestations ; Diagnosis ; History ; Management ; Mucopolysaccharidosis IVA
• 刊名：Orphanet Journal of Rare Diseases
• 出版年：2014
• 出版时间：December 2014
• 年：2014
• 卷：9
• 期：1
• 全文大小：388 KB
• 作者单位：Hsiang-Yu Lin (1) (2) (3) (4) (5)
  Chih-Kuang Chuang (3) (6) (7)
  Ming-Ren Chen (1) (2) (4)
  Pao Chin Chiu (8)
  Yu-Yuan Ke (9)
  Dau-Ming Niu (10) (5)
  Fuu-Jen Tsai (11)
  Wuh-Liang Hwu (12)
  Ju-Li Lin (13)
  Shuan-Pei Lin (1) (14) (2) (3) (4)
  
  1. Department of Medicine, Mackay Medical College, New Taipei City, Taiwan
  2. Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan
  3. Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan
  4. Mackay Junior College of Medicine, Nursing, and Management, Taipei, Taiwan
  5. Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan
  6. Medical College, Fu-Jen Catholic University, Taipei, Taiwan
  7. Institute of Biotechnology, National Taipei University of Technology, Taipei, Taiwan
  8. Department of Pediatrics, Kaohsiung Veterans General Hospital, Kaohsiung, Taiwan
  9. Department of Pediatrics, Taichung Veterans General Hospital, Taichung, Taiwan
  10. Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan
  11. Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan
  12. Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan
  13. Division of Medical Genetics, Department of Pediatrics, Chang Gung Children’s Hospital, Taoyuan, Taiwan
  14. Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan
  
• ISSN：1750-1172

文摘

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?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?±-.6 and 5.7?±-.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?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.