Mucopolysaccharidosis III in Taiwan: Natural history,clinical and molecular characteristics of 28 patients diagnosed during a 21‐year period |
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| Authors: | Hsiang‐Yu Lin Chih‐Kuang Chuang Chung‐Lin Lee Ru‐Yi Tu Yun‐Ting Lo Pao Chin Chiu Dau‐Ming Niu Yi‐Ya Fang Tzu‐Lin Chen Fuu‐Jen Tsai Wuh‐Liang Hwu Shio Jean Lin Tung‐Ming Chang Shuan‐Pei Lin |
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| Affiliation: | 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. Department of Medical Research, China Medical University Hospital, China Medical University, Taichung, Taiwan;6. Medical College, Fu‐Jen Catholic University, Taipei, Taiwan;7. Department of Laboratory Medicine, Mackay Memorial Hospital, Taipei, Taiwan;8. Department of Pediatrics, Kaohsiung Veterans General Hospital, Kaohsiung, Taiwan;9. Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan;10. Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan;11. Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan;12. Department of Pediatrics, Chi Mei Medical Center, Tainan, Taiwan;13. Department of Pediatric Neurology, Changhua Christian Children's Hospital, Changhua, Taiwan;14. Department of Biological Science and Technology, College of Biological Science and Technology, National Chiao Tung University, Hsinchu, Taiwan;15. Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan |
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| Abstract: | Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) has a variable age of onset and variable rate of progression. However, information regarding the natural history of this disorder in Asian populations is limited. A retrospective analysis was carried out for 28 patients with MPS III (types IIIA [n = 3], IIIB [n = 23], and IIIC [n = 2]; 15 males and 13 females; median age, 8.2 years; age range, 2.7–26.5 years) seen in six medical centers in Taiwan from January 1996 through October 2017. The median age at confirmed diagnosis was 4.6 years. The most common initial symptom was speech delay (75%), followed by hirsutism (64%) and hyperactivity (54%). Both z scores for height and weight were negatively correlated with age (r = –.693 and ?0.718, respectively; p < .01). The most prevalent clinical manifestations were speech delay (100%) and intellectual disability (100%), followed by hirsutism (93%), hyperactivity (79%), coarse facial features (68%), sleep disorders (61%), and hepatosplenomegaly (61%). Ten patients (36%) had epilepsy, and the median age at the first seizure was 11 years. Thirteen patients (46%) experienced at least one surgical procedure. At the time of the present study, 7 of the 28 patients had passed away at the median age of 13.0 years. Molecular studies showed an allelic heterogeneity without clear genotype and phenotype correlations. MPS IIIB is the most frequent subtype among MPS III in the Taiwanese population. An understanding of the natural history of MPS III may allow early diagnosis and timely management of the disease facilitating better treatment outcomes. |
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| Keywords: | clinical manifestations diagnosis management mucopolysaccharidosis III natural history |
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