Genetic and clinical demographics of adult cystic fibrosis patients in a middle eastern population

Shafiq, Irfan, Shabeer, Safia, Haider Uzbeck, Mateen, Zoumot, Zaid, Abuzakouk, Mohamed, and Saeed Wahla, Ali (2021) Genetic and clinical demographics of adult cystic fibrosis patients in a middle eastern population. Turkish Thoracic Journal, 22 (4). pp. 279-283.

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Abstract

OBJECTIVE: Cystic fibrosis (CF) is the commonest life-limiting inherited illness in the Caucasian population but is uncommon in the Middle East, and so the genotypes and clinical course of disease in this population is not well known.

MATERIAL AND METHODS: In this retrospective observational study, we collected and reviewed the data on CF mutations, body mass index (BMI), lung function, microbiology, and the demographics in adult CF patients in the United Arab Emirates (UAE).

RESULTS: Data was reviewed for 39 adult CF patients. The median age of adult CF patients presenting to our clinic was 25 years (inter-quartile range (IQR) 22-31), the median BMI was 19 (IQR 17-22), and the median percentage predicted forced expiratory volume at 1 second (FEV1) was 49.5% (IQR 38.5-62.5). S549R was the commonest mutation (n = 11, 28%) followed by ∆F508 (n = 9, 23%). Only 5 (13%) out of 39 patients were heterozygote for CF mutations which reflects the high level of consanguinity in the region. Twelve (30%) patients were diagnosed after the age of 16, and in total, 19 (48%) were diagnosed after the age of 10. Thirty-two (82%) of patients are pseudomonas colonized, and 31% had 3 or more exacerbations in the last 12 months.

CONCLUSION: The CF mutation patterns in the UAE are different from western populations with low ∆F508 prevalence, with the presence of rare mutations more specific to this region and a high rate of homozygosity. Late diagnosis, high pseudomonas colonization rate, and exacerbation frequency remain a problem in this region and lead to poor long-term outcomes.

Item ID: 70288
Item Type: Article (Research - C1)
ISSN: 2149-2530
Keywords: Bronchiectasis, Clinical epidemiology, Cystic fibrosis, Pediatric lung disease, Rare lung diseases
Copyright Information: All published content is available online, free of charge at https://turkthoracj.org/. Authors retain the copyright of their published work in Turkish Thoracic Journal. The journal’s content is licensed under a Creative Commons Attribution-NonCommercial (CC BY-NC) 4.0 International License which permits third parties to share and adapt the content for non-commercial purposes by giving the appropricate credit to the original work.
Date Deposited: 04 May 2022 00:46
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