Shafiq Irfan, Shabeer Safia, Uzbeck Mateen Haider, Zoumot Zaid, Abuzakouk Mohamed, Wahla Ali Saeed
Cleveland Clinic Abu Dhabi, Respiratory and Allergy Institute, Abu Dhabi, United Arab Emirates.
College of Medicine and Dentistry, James Cook University, Townsville, Queensland, Australia.
Turk Thorac J. 2021 Jul;22(4):279-283. doi: 10.5152/TurkThoracJ.2021.20121.
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.
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).
Data was reviewed for 39 adult CF patients. The median age of adult CF patients presenting to our clinic was 25 years (interquartile 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.
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.
囊性纤维化（CF）是白种人群中最常见的限制寿命的遗传性疾病，但在中东地区并不常见，因此该人群中疾病的基因型和临床病程尚不为人所知。
在这项回顾性观察研究中，我们收集并审查了阿联酋成年CF患者的CF突变、体重指数（BMI）、肺功能、微生物学及人口统计学数据。
对39例成年CF患者的数据进行了审查。到我们诊所就诊的成年CF患者的中位年龄为25岁（四分位间距（IQR）22 - 31），中位BMI为19（IQR 17 - 22），1秒用力呼气容积（FEV1）预测值的中位百分比为49.5%（IQR 38.5 - 62.5）。S549R是最常见的突变（n = 11，28%），其次是ΔF508（n = 9，23%）。39例患者中只有5例（13%）为CF突变杂合子，这反映了该地区较高的近亲结婚率。12例（30%）患者在16岁以后被诊断，总计19例（48%）在10岁以后被诊断。32例（82%）患者有铜绿假单胞菌定植，31%的患者在过去12个月中有3次或更多次病情加重。
阿联酋的CF突变模式与西方人群不同，ΔF508患病率较低，存在该地区更特有的罕见突变且纯合子率较高。该地区晚期诊断、高铜绿假单胞菌定植率和病情加重频率仍然是问题，并导致不良的长期预后。
