Cystic fibrosis and neonatal screening

• Published in: Cadernos de saúde pública Vol. 24 Suppl 4; no. suppl 4; pp. s475 - s484
• Main Authors: Rodrigues, Roberta, Gabetta, Carmen S, Pedro, Karla P, Valdetaro, Fabio, Fernandes, Maria I M, Magalhães, Patrícia K R, Januário, José N, Maciel, Léa M Z
• Format: Journal Article
• Language: English
• Published: Brazil Escola Nacional de Saúde Pública Sergio Arouca, Fundação Oswaldo Cruz 2008
• Subjects: Antigens, Neoplasm - blood; Biomarkers, Tumor - blood; Black or African American; Black People; Cystic Fibrosis - diagnosis; Cystic Fibrosis - genetics; Cystic Fibrosis Transmembrane Conductance Regulator - blood; Cystic Fibrosis Transmembrane Conductance Regulator - genetics; DNA - analysis; Humans; Immunohistochemistry; Incidence; Infant, Newborn; Lectins, C-Type - blood; Neonatal Screening; Pancreatitis-Associated Proteins; Prenatal Diagnosis; PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH; Trypsin - blood; United States - epidemiology; White People; United States; Revisão; Fibrose Cística; Review; Cystic Fibrosis; Neonatal Screening; Triagem Neonatal
• ISSN: 0102-311X; 1678-4464; 1678-4464; 0102-311X
• DOI: 10.1590/s0102-311x2008001600002

The clinical and diagnostic aspects of cystic fibrosis have been extensively reviewed, with an emphasis on neonatal screening. This systematic literature review involved a search for relevant contributions in the PubMed and SciELO databases. The first references to cystic fibrosis date to the Middle Ages. Cystic fibrosis is the most frequent autosomal recessive hereditary disease among Caucasians (1:2,000 to 3,500). More than 1,000 mutations lead to the disease, the most common being "F508, with 70% prevalence among Canadian, Northern European, and American Caucasians and 23 to 55% prevalence among Brazilians. The basic defect is in chloride ion secretion. Cystic fibrosis screening has long been controversial, and after almost three decades, there are few nationwide programs (most are regional or local). However, the U.S. Centers for Disease Control and Prevention (CDC) has concluded that screening for cystic fibrosis is justified. The lack of a specific screening test and the ethnic heterogeneity of the Brazilian population pose challenges for neonatal screening.