Cystic Fibrosis Centre, Pediatric Division, Hospital San Carlo, Potenza, Italy.
Italian Cystic Fibrosis Registry, Istututo Superiore di Sanità, Rome, Italy.
Pediatr Pulmonol. 2021 Oct;56(10):3232-3241. doi: 10.1002/ppul.25616. Epub 2021 Aug 18.
People with cystic fibrosis (pwCF) and a minimal function (MF) mutation are poorly characterized. The aim of this study was to evaluate the disease characteristics of adult and pediatric pwCF with a genotype including an MF mutation on the basis of 2018 data from the Italian CF Registry (ICFR).
This cross-sectional, descriptive analysis of CF disease characteristics included all of the pwCF with at least one MF mutation or two F508del (F) mutations, and at least one 2018 entry in the ICFR. Data concerning the disease characteristics of pwCF with an F/F genotype are provided for reference.
A total of 5501 pwCF had at least one entry in the 2018 ICFR, including 2867 whose genotype included an MF mutation; in particular, 1432 had an MF/F genotype and 1148 the F/F genotype. The most frequent F/MF genotypes were F/N1303K (n = 247, 8.6%) and F/G542X (n = 193, 6.7%). The MF/no-F patients generally had a milder phenotype (a later diagnosis, lower sweat chloride levels, better nutrition, better lung function [starting from adolescence], and a lower prevalence of chronic infections and CF-related complications) than the MF/F or F/F patients.
The findings of this descriptive analysis highlight the disease characteristics of pwCF with an MF-including genotype in Italy. The considered clinical outcomes of the pwCF with an F/MF genotype were not generally different from those of pwCF with an F/F genotype, but the patients with an MF/no-F genotype generally had a milder phenotype.
患有囊性纤维化（CF）且存在最小功能（MF）突变的患者特征描述较差。本研究旨在根据意大利 CF 登记处（ICFR）2018 年的数据，评估存在 MF 突变或两个 F508del（F）突变的成人和儿科 CF 患者的疾病特征。
这是一项 CF 疾病特征的横断面、描述性分析，纳入了至少有一种 MF 突变或两种 F/F 突变且至少有一项 2018 年 ICFR 记录的所有 CF 患者。为参考，提供了存在 F/F 基因型的 CF 患者疾病特征的数据。
共有 5501 名 CF 患者至少在 2018 年 ICFR 中有一项记录，其中 2867 名患者的基因型包含 MF 突变；具体来说，1432 名患者存在 MF/F 基因型，1148 名患者存在 F/F 基因型。最常见的 F/MF 基因型为 F/N1303K（n=247，8.6%）和 F/G542X（n=193，6.7%）。MF/无-F 患者的表型通常较温和（发病较晚、汗液氯化物水平较低、营养状况较好、肺功能更好[从青春期开始]，慢性感染和 CF 相关并发症的发生率较低），与 MF/F 或 F/F 患者相比。
该描述性分析的结果突出了意大利存在 MF 包含基因型的 CF 患者的疾病特征。考虑到的存在 F/MF 基因型的 CF 患者的临床结局通常与存在 F/F 基因型的 CF 患者的临床结局无差异，但存在 MF/无-F 基因型的患者的表型通常较温和。
