A comprehensive overview of the cystic fibrosis on the island of S��o Miguel (Azores, Portugal).
Joana Rosa, Patr��cia Gaspar-Silva, Paula Pacheco, Concei����o Silva, Cl��udia C Branco, Barbara S Vieira, Alexandra Carreiro, Juan Gon��alves, Luisa Mota-Vieira
Author Information
Joana Rosa: Pediatric Department, Hospital do Divino Espirito Santo de Ponta Delgada EPER, 9500-782 Ponta Delgada S��o Miguel Island, Azores, Portugal. JR890330@azores.gov.pt. ORCID
Patr��cia Gaspar-Silva: Pediatric Department, Hospital do Divino Espirito Santo de Ponta Delgada EPER, 9500-782 Ponta Delgada S��o Miguel Island, Azores, Portugal.
Paula Pacheco: Centre for Human Genetics, Instituto Nacional de Sa��de Dr. Ricardo Jorge, Lisbon, Portugal.
Concei����o Silva: Centre for Human Genetics, Instituto Nacional de Sa��de Dr. Ricardo Jorge, Lisbon, Portugal.
Cl��udia C Branco: Molecular Genetics and Pathology Unit, Hospital do Divino Espirito Santo de Ponta Delgada EPER, S��o Miguel Island, Azores, Portugal.
Barbara S Vieira: Unidade de Sa��de P��blica da Unidade de Sa��de da Ilha de S��o Miguel, S��o Miguel Island, Azores, Portugal.
Alexandra Carreiro: Pneumology Department, Hospital do Divino Espirito Santo de Ponta Delgada EPER, S��o Miguel Island, Azores, Portugal.
Juan Gon��alves: Pediatric Department, Hospital do Divino Espirito Santo de Ponta Delgada EPER, 9500-782 Ponta Delgada S��o Miguel Island, Azores, Portugal.
Luisa Mota-Vieira: Molecular Genetics and Pathology Unit, Hospital do Divino Espirito Santo de Ponta Delgada EPER, S��o Miguel Island, Azores, Portugal.
BACKGROUND: Early diagnosis and treatment are improving significantly the quality of life of patients with cystic fibrosis (CF). This recessive disease is caused by a great variability of mutations in the CF transmembrane conductance (CFTR) gene, whose spectrum and frequency can be different across populations. METHODS: We performed a retrospective cross-sectional study of CF patients from the island of S��o Miguel (Azores, Portugal) through a clinical, genealogical, genetic and epidemiological investigation. The clinical course of patients was analyzed as a whole and according to their genotype. RESULTS: We identified 14 CF patients within a 23-year period, corresponding to a cumulative incidence of 1:3012 births, being three of them born from consanguineous unions. Genetic analysis revealed three CFTR genotypes: p.[Ser4Ter];[Gln1100Pro] was present in one patient with a less severe phenotype (1/14); c.[120del23];p.[Phe508del], a very rare one (2/14); and p.[Phe508del];[Phe508del] in the remaining patients (11/14). Clinically, respiratory infections (8/14) and growth failure (6/14) were the most common initial manifestations. All patients presented pancreatic dysfunction, with 21.4 and 100% of them showing endocrine and exocrine insufficiency, respectively. As expected, patients with severe phenotype were homozygous for p.Phe508del and had the lowest value of body mass index. CONCLUSIONS: The present study demonstrated that S��o Miguel Island has an increased incidence of CF when compared to recent Portuguese data (1:7500 live births). It also allowed a comprehensive overview of CF in S��o Miguel, improving medical practice along with genetic counselling and creating opportunities for genotype-targeted therapies.
