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Geographic distribution and phenotype of European people with cystic fibrosis carrying A1006E mutation.
- Source :
-
Respiratory medicine [Respir Med] 2022 Feb; Vol. 192, pp. 106736. Date of Electronic Publication: 2022 Jan 06. - Publication Year :
- 2022
-
Abstract
- Background: A1006E is a Cystic Fibrosis (CF) mutation that is still not widely known. We report phenotypic features and geographic distribution of the largest cohort of people with CF (pwCF) carrying A1006E to date.<br />Methods: Study of European pwCF carrying A1006E mutation, included in the European CF Society Patient Registry (ECFSPR). Genotype, ancestries and all variables recorded were compared to a cohort of F508del/F508del patients. Rate of decline in percentage-of-predicted FEV <subscript>1</subscript> (ppFEV <subscript>1</subscript> ) was also analyzed using the 2010-2017 ECFSPR.<br />Results: 44 pwCF carrying A1006E were reported (59% males), median age 33 years old (3-58), 54.5% Spanish and 40.9% Italian, most with ancestry in Murcia (Spain) and Lazio (Italy) regions. Compared to F508del homozygous, A1006E-pwCF were significantly older (75% vs. 52.5% ≥ 18 years old) and diagnosed at later median age (6.98 vs. 0.29 years); showed lower rates of meconium ileus (2.33% vs. 17.7%), pancreatic insufficiency (27.91% vs. 99.26%), diabetes (2.33% vs. 21.98%), liver disease (6.98% vs. 36.72%) and Pseudomonas aeruginosa chronic colonization (30.95% vs. 42.51%); and presented better nutrition (BMI z-score 0.44 vs. -0.43) and ppFEV <subscript>1</subscript> (90.8% vs. 78.6%), with 18.9% (most >40 years old) having a ppFEV <subscript>1</subscript> <70%. Additional ppFEV <subscript>1</subscript> decline (0.96% per year) was attributed to F508del/F508del genotype (p = 0.0007). None died or needed organ transplantation during the study period.<br />Conclusions: A1006E-pwCF are mainly of Western Mediterranean Spanish and Italian descent. When compared with F508del/F508del-pwCF, they usually have a milder form of the disease, associated with pancreatic sufficiency and slower FEV <subscript>1</subscript> decline. However, some will develop progressive respiratory impairment during adulthood.<br /> (Copyright © 2022 Elsevier Ltd. All rights reserved.)
Details
- Language :
- English
- ISSN :
- 1532-3064
- Volume :
- 192
- Database :
- MEDLINE
- Journal :
- Respiratory medicine
- Publication Type :
- Academic Journal
- Accession number :
- 35032736
- Full Text :
- https://doi.org/10.1016/j.rmed.2022.106736