Abstract
Introdution: R334W is a poorly described mutation responsible for less severe forms of Cystic Fibrosis,compared to ΔF508.In small cohorts,R334W patients’ age at diagnosis was reported as higher and pancreatic insufficiency as less extent, but data on the impact of this mutation is lacking.
Aims and Objectives: To characterize a group of patients presenting R334W mutation.
Matherial and Methods: Data from patients with R334W and ΔF508 mutations were collected.The variables studied were age at diagnosis,gender,genotype,BMI,FEV1,FVC,pancreatic function and Pseudomonas aeruginosa (PA) colonization.
Results: 10/38 presented R334W mutation,5 homozygotes and the remaining R334W/ΔF508. 50% were male.Median age at diagnosis was 23.0 years-old (IQR 19.3).Median FEV1 and FVC was 1.42L/47.7% (IQR 1.99L/54.8%) and 2.32L/65.8% (IQR 2.03L/45.4%), respectively. Median BMI was 23.5 Kg/m2 (IQR 4.21 Kg/m2). 3/10 presented pancreatic insufficiency. PA colonization occurred in 7/10 cases. 3/10 underwent lung transplantation at age 46, 40 and 32. In contrast, 12/38 were homozygous for ΔF508. 8 were female. Median age at diagnosis was 2.0 years-old (IQR 3.92).Median FEV1 and FVC was 1.64L/54.4%(IQR 1.12L/28.7%) and 2.96L/82.6%(IQR 1.37L/18.2%), respectively. Median BMI was 21.1 Kg/m2 (IQR 4.25 Kg/m2).All patients presented pancreatic insufficiency.PA colonization occurred in 6/12 cases. 1/12 underwent lung transplantation at 28 years-old.
Conclusions: R334W patients’ age at diagnosis was significantly higher compared with the homozygous for ΔF508 and this result showed statistical significance(p<0.01).Pancreatic insufficiency occurred in all cases for ΔF508,instead of R334W patients’ who presented with 3/10.
Footnotes
Cite this article as: European Respiratory Journal 2020; 56: Suppl. 64, 2766.
This abstract was presented at the 2020 ERS International Congress, in session “Respiratory viruses in the "pre COVID-19" era”.
This is an ERS International Congress abstract. No full-text version is available. Further material to accompany this abstract may be available at www.ers-education.org (ERS member access only).
- Copyright ©the authors 2020