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非洲和亚洲囊性纤维化的综合综述。

A comprehensive review of cystic fibrosis in Africa and Asia.

作者信息

Abubakar Bobbo Khadijat, Ahmad Umar, Chau De-Ming, Nordin Norshariza, Abdullah Syahril

机构信息

UPM-MAKNA Cancer Research Laboratory, Institute of Bioscience, Universiti Putra Malaysia, 43400 UPM Selangor, Malaysia.

Department of Human Anatomy College of Medical Sciences, Faculty of Medicine, Gombe State University, 760253 Gombe State, Nigeria.

出版信息

Saudi J Biol Sci. 2023 Jul;30(7):103685. doi: 10.1016/j.sjbs.2023.103685. Epub 2023 May 19.

Abstract

Cystic fibrosis (CF) was earlier thought to be a disease prevalent in the West among Caucasians. However, quite a number of recent studies have uncovered CF cases outside of this region, and reported hundreds of unique and novel variant forms of . Here, we discuss the evidence of CF in parts of the world earlier considered to be rare; Africa, and Asia. This review also highlighted the mutation variations and new mutations discovered in these regions. This discovery implies that the CF data from these regions were earlier underestimated. The inadequate awareness of the disease in these regions might have contributed towards the poor diagnostic facilities, under-diagnosis or/and under-reporting, and the lack of CF associated health policies. Overall, these regions have a high rate of infant, childhood and early adulthood mortality due to CF. Therefore, there is a need for a thorough investigation of CF prevalence and to identify unique and novel variant mutations within these regions in order to formulate intervention plans, create awareness, develop mutation specific screening kits and therapies to keep CF mortality at bay.

摘要

囊性纤维化(CF)早期被认为是一种在西方白种人中普遍存在的疾病。然而,最近的一些研究发现该地区以外也有不少CF病例,并报告了数百种独特的新型变异形式。在此,我们讨论在世界上早期被认为罕见的地区——非洲和亚洲——出现CF的证据。本综述还强调了在这些地区发现的CF突变变异和新突变。这一发现意味着这些地区的CF数据此前被低估了。这些地区对该疾病认识不足可能导致诊断设施不完善、诊断不足或/和报告不足,以及缺乏与CF相关的健康政策。总体而言,这些地区因CF导致婴儿、儿童和青年早期死亡率很高。因此,有必要对CF患病率进行全面调查,并在这些地区识别独特的新型变异突变,以便制定干预计划、提高认识、开发针对特定突变的筛查试剂盒和疗法,从而控制CF死亡率。

相似文献

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A comprehensive review of cystic fibrosis in Africa and Asia.非洲和亚洲囊性纤维化的综合综述。
Saudi J Biol Sci. 2023 Jul;30(7):103685. doi: 10.1016/j.sjbs.2023.103685. Epub 2023 May 19.
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本文引用的文献

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Molecular analysis of gene mutations among Iraqi cystic fibrosis patients.伊拉克囊性纤维化患者基因突变的分子分析
Egypt J Med Hum Genet. 2021;22(1):45. doi: 10.1186/s43042-021-00164-x. Epub 2021 May 11.

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