阿曼儿童囊性纤维化的患病率及特征：一项多中心横断面研究
Prevalence and Characteristics of Cystic Fibrosis in Omani Children: A Multi-center Cross-sectional Study.
作者信息
Al Oraimi Sumaya, Al Shidhani Khoula, Al Harthi Hasina, Al Sinani Suaad, Al Busaidi Nasser, Al Bimani Muna, Al Salmi Qasem, Al Kindi Hussein
机构信息
Pediatric Pulmonology unit, Department of Child Health, Royal Hospital, Muscat, Oman.
Research Section, Royal Hospital, Muscat, Oman.
出版信息
Oman Med J. 2022 Nov 30;37(6):e444. doi: 10.5001/omj.2022.101. eCollection 2022 Nov.
OBJECTIVES
To describe the demographic distribution of cystic fibrosis (CF) in Omani children, estimate the national prevalence, and provide updated mutational panels of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
METHODS
We conducted a retrospective cross-sectional study of all CF patients who had been diagnosed and followed-up at Sultan Qaboos University Hospital and Royal Hospital in Oman between 2006 and 2020. Data were collected from electronic hospital records and telephone interviews.
RESULTS
A total of 227 patients with CF were included in the study. Geographical clusters of the disease were identified in the governorates of Al-Batinah, A'Dhahirah, and A'Dakhiliyah. Parental consanguinity and family history of CF were present in 68.3% and 69.6% of the patients, respectively. The most common CFTR mutation was p.Ser549Arg (52.0%), followed by p.Phe508del (12.3%), and c.2988+1G>A (4.4%). Three novel CFTR mutations were identified, viz., Leu88TyrFs*, p.Asp192Val, and c.4242+1G>C.
CONCLUSIONS
The estimated prevalence of CF in Oman is 10.3 per 100 000 individuals. Premarital genetic counseling and preimplantation genetic testing are recommended in CF-prevalent regions.
目的
描述阿曼儿童囊性纤维化（CF）的人口统计学分布，估计全国患病率，并提供囊性纤维化跨膜传导调节因子（CFTR）基因的最新突变谱。
方法
我们对2006年至2020年间在阿曼苏丹卡布斯大学医院和皇家医院确诊并接受随访的所有CF患者进行了一项回顾性横断面研究。数据从电子医院记录和电话访谈中收集。
结果
共有227例CF患者纳入研究。在巴提奈、艾哈迈德和达希利耶等省发现了该病的地理聚集区。分别有68.3%和69.6%的患者存在父母近亲结婚和CF家族史。最常见的CFTR突变是p.Ser549Arg（52.0%），其次是p.Phe508del（12.3%）和c.2988+1G>A（4.4%）。鉴定出三个新的CFTR突变，即Leu88TyrFs*、p.Asp192Val和c.4242+1G>C。
结论
阿曼CF的估计患病率为每10万人中有10.3例。建议在CF流行地区进行婚前遗传咨询和植入前基因检测。
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