Chan Sophelia H S, Lo Ivan F M, Cherk Sharon W W, Cheng Wai Wai, Fung Eva L W, Yeung Wai Lan, Ngan Mary, Lee Wing Cheong, Kwong Ling, Wong Suet Na, Ma Che Kwan, Tai Shuk Mui, Ng Grace S F, Wu Shun Ping, Wong Virginia C N
Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong SAR, China.
Department of Health, Clinical Genetic Services, Hong Kong SAR, China.
Child Neurol Open. 2015 May 26;2(2):2329048X15585345. doi: 10.1177/2329048X15585345. eCollection 2015 Apr-Jun.
The aim of this collaborative study on Duchenne muscular dystrophy and Becker muscular dystrophy is to determine the prevalence and to develop data on such patients as a prelude to the development of registry in Hong Kong. Information on clinical and molecular findings, and patient care, was systematically collected in 2011 and 2012 from all Pediatric Neurology Units in Hong Kong. Ninety patients with dystrophinopathy were identified, and 83% has Duchenne muscular dystrophy. The overall prevalence of dystrophinopathy in Hong Kong in 2010 is 1.03 per 10 000 males aged 0 to 24 years. Among the Duchenne group, we observed a higher percentage (40.6%) of point mutations with a lower percentage (45.3%) of exon deletions in our patients when compared with overseas studies. Although we observed similar percentage of Duchenne group received scoliosis surgery, ventilation support, and cardiac treatment when compared with other countries, the percentage (25%) of steroid use is lower.
这项关于杜氏肌营养不良症和贝克肌营养不良症的合作研究旨在确定其患病率，并收集此类患者的数据，作为在香港建立登记册的前奏。2011年和2012年，从香港所有儿科神经科收集了有关临床和分子研究结果以及患者护理的信息。共识别出90例肌营养不良蛋白病患者，其中83%患有杜氏肌营养不良症。2010年香港肌营养不良蛋白病在0至24岁男性中的总体患病率为每10000人中有1.03例。与海外研究相比，在杜氏组中，我们观察到患者的点突变百分比更高（40.6%），外显子缺失百分比更低（45.3%）。尽管与其他国家相比，我们观察到杜氏组接受脊柱侧弯手术、通气支持和心脏治疗的百分比相似，但使用类固醇的百分比（25%）较低。
