亚洲的囊性纤维化

S. Kabra, Shakil Ahmed, G. Cheok, AnneE N Goh, A. Han, S. Hong, W. Indawati, A. L. Lutful Kabir, H. Kamalaporn, H. Kim, Kunling Shen, S. Lochindarat, M. Moslehi, A. Nathan, D. Ng, NguyenNg The Phung, V. Singh, M. Takase, R. Triasih, Z. Dai
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引用次数: 7

摘要

背景:囊性纤维化(CF)是高加索人群中最常见的遗传性限制生命的疾病。它被认为是罕见的在亚洲,但最近的报告表明,CF确实发生在亚洲。方法:我们进行了一项基于问卷的调查,以确定亚洲国家CF的患病率以及成员国现有的诊断和治疗能力。向亚洲儿科肺病学会的成员国发送了一份问卷。调查问卷包括该国诊断为CF的儿童总数和可用资源。可用的诊断和管理资源。结果:15个国家回应了调查问卷。三个国家/地区(缅甸、越南和澳门)未记录任何CF病例。其余12个国家记录了不同数量的病例,这些病例也在文献中报告。除报告CF病例的台湾外,所有国家都有汗液氯化物检测设施。印度和孟加拉国等一些国家开发了自己的汗液检测方法。一些国家有突变检测设施。在所有诊断出患有CF的儿童的国家,都可以获得胰酶补充和抗生素等基本药物。吸入性抗生素和多纳酶仅在少数国家可用。其他一些国家报告使用庆大霉素和阿米卡星注射制剂进行吸入治疗。基因突变检测显示,Delta F 508突变的频率很低,这是高加索人群中最常见的突变。只有两个国家(印度和日本)有针对受影响社区的正式CF协会。日本和中国这两个国家保持着CF注册,而印度已经开始了开发过程。结论:在过去的二十年中,CF在亚洲国家的诊断越来越多。有必要提高儿科医生的认识,并为CF患儿的诊断和治疗制定区域或国家特定的方案和工具。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Cystic fibrosis in asia
Background: Cystic fibrosis (CF) is the most common inherited life-limiting illness in the Caucasian population. It is considered to be rare in Asia, but recent reports suggest that CF does occur in Asia. Methods: We carried out a questionnaire-based survey to determine the prevalence of CF across Asian countries and the diagnostic and therapeutic capabilities available in member countries. A questionnaire was sent to member countries of the Asian Pediatric Pulmonology Society. The questionnaire included the total number of children diagnosed with CF seen in the country and the available resources. available resources for diagnosis and management. Results: Fifteen countries responded to the questionnaire. Three countries/regions (Myanmar, Vietnam, and Macau) have not recorded any case of CF. The remaining 12 countries have recorded a variable number of cases which have also been reported in the literature. Sweat chloride testing facilities were available in all the countries except Taiwan that reported cases of CF. Some countries such as India and Bangladesh have developed their own indigenous method for sweat testing. Some countries have facilities for mutation testing. Basic medications such as pancreatic enzyme supplementation and antibiotics were available in all the countries where children with CF have been diagnosed. Inhaled antibiotics and dornase alfa were available only in a few countries. Some other countries reported using the injectable preparation of gentamicin and amikacin for inhalation therapy. Testing for genetic mutation wherever available showed a low frequency of the Delta F 508 mutation which is the most common mutation found in the Caucasian population. Only two countries (India and Japan) have formal CF associations for the affected community. Two countries Japan and China maintain a CF registry, whereas India already started the process of developing it. Conclusion: CF is increasingly being diagnosed over the past two decades in Asian countries. There is a need to create awareness among pediatricians and to develop regional or country-specific protocols and tools for the diagnosis and treatment of children with CF.
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