A comprehensive review of cystic fibrosis in Africa and Asia

被引:6
作者
Bobbo, Khadijat Abubakar [1 ,2 ,5 ]
Ahmad, Umar [3 ,4 ]
Chau, De -Ming [5 ,6 ]
Nordin, Norshariza [5 ,6 ]
Abdullah, Syahril [1 ,5 ,6 ]
机构
[1] Univ Putra Malaysia, Inst Biosci, UPM MAKNA Canc Res Lab, Serdang 43400, Selangor, Malaysia
[2] Gombe State Univ, Coll Med Sci, Fac Med, Dept Human Anat, Gombe 760253, Gombe, Nigeria
[3] Bauchi State Univ, Fac Basic Med Sci, Dept Anat, Mol Genet Informat, Gadau 751105, Nigeria
[4] African Union Commiss, Inst Pathogen Genom, Africa Ctr Dis Control & Prevent Africa CDC, POB 3243, Addis Ababa, Ethiopia
[5] Univ Putra Malaysia, Fac Med & Hlth Sci, Dept Biomed Sci, Serdang 43400, Selangor, Malaysia
[6] Univ Putra Malaysia, Fac Med & Hlth Sci, Genet & Regenerat Med Res Grp, Serdang 43400, Selangor, Malaysia
关键词
Cystic Fibrosis; Caucasian; Africa; Asia; TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR GENE-MUTATIONS; CONGENITAL BILATERAL ABSENCE; SOUTH-AFRICA; SPECTRUM; CHILDREN; DISEASE; IDENTIFICATION; EPIDEMIOLOGY; PREVALENCE;
D O I
10.1016/j.sjbs.2023.103685
中图分类号
Q [生物科学];
学科分类号
07 ; 0710 ; 09 ;
摘要
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 CFTR. 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 CFTR 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.& COPY; 2023 The Author(s). Published by Elsevier B.V. on behalf of King Saud University. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
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页数:24
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