Paediatric Unit, Department of Translational Medical Sciences, Cystic Fibrosis Regional Reference Center, University of Naples Federico II, Naples, Italy.
Cystic Fibrosis Regional Reference Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Department of Pathophysiology and Transplantation, Milan, Italy.
J Cyst Fibros. 2022 Sep;21(5):850-855. doi: 10.1016/j.jcf.2022.04.020. Epub 2022 May 4.
In recent years, patients with cystic fibrosis (CF) conductance regulator (CFTR) variant poly(T) sequences have been increasingly reported with a wide spectrum of clinical severity. We describe the long-term clinical outcomes and progression to a CF diagnosis over time in a large Italian cohort of patients carrying the CFTR F508del/5T;TG12 genotype.
A retrospective analysis of subjects from 10 CF centres in Italy with the F508del/5T;TG12 genotype was performed. Demographic, clinical, microbiological, and biochemical data, as well as information about the follow-ups and complications of the enroled patients, were collected.
A total of 129 subjects (54 females; median age: 15.0 years, range: 0-58 years; 59 older than 18 years) were included. In terms of initial diagnoses, 30 were CF (23.3%), 41 were CFTR-related disorder (CFTR-RD) (31.7%), and 58 were CF transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID) (45.0%). After a median follow-up of 6.7 years (range 0.2-25 years), 15 patients progressed to CF, bringing the total number of CF diagnoses to 45/129 (34.9%). Most of these patients had mild lung diseases with pancreatic sufficiency and a low prevalence of CF-related complications.
At the end of the study, 34.9% of subjects with the CFTR F508del/5T;TG12 genotype were diagnosed with CF. We suggest including patients with the F508del/5T;TG12 genotype in long-term follow-ups.
近年来，携带囊性纤维化（CF）跨膜电导调节因子（CFTR）多（T）序列变体的 CF 患者的报道越来越多，其临床表现的严重程度也各不相同。我们描述了意大利一个大型 CFTR F508del/5T;TG12 基因型患者队列中，随着时间的推移，这些患者的长期临床结局和 CF 诊断进展情况。
对意大利 10 个 CF 中心的携带 F508del/5T;TG12 基因型的患者进行回顾性分析。收集了患者的人口统计学、临床、微生物学和生化数据，以及有关纳入患者随访和并发症的信息。
共纳入 129 名患者（54 名女性；中位年龄：15.0 岁，范围：0-58 岁；59 岁以上 18 岁）。根据初始诊断，30 例为 CF（23.3%），41 例为 CFTR 相关疾病（CFTR-RD）（31.7%），58 例为 CF 跨膜电导调节因子相关代谢综合征/囊性纤维化筛查阳性、不确定诊断（CRMS/CFSPID）（45.0%）。中位随访 6.7 年后（范围 0.2-25 年），15 例患者进展为 CF，使 CF 诊断总数达到 45/129（34.9%）。这些患者大多患有轻度肺部疾病，胰腺功能正常，CF 相关并发症的发生率较低。
研究结束时，45.0%的 CFTR F508del/5T;TG12 基因型患者被诊断为 CF。我们建议将携带 CFTR F508del/5T;TG12 基因型的患者纳入长期随访。
