RESUMEN
OBJECTIVES: To determine whether early identification of babies with cystic fibrosis (CF) improves outcome in the current environment of new improved treatments, considering the criticism that there may be only marginal benefit gained by CF newborn screening (NBS). STUDY DESIGN: We tested whether CF NBS in the setting of modern CF center care still afforded benefit using the UK CF Database (UKCFD; ) to compare clinical outcomes in infants who underwent NBS and control subjects who were clinically diagnosed (CD). With Mann-Whitney rank tests, 184 patients who underwent NBS aged 1 to 9 years in 2002 (excluding meconium ileus) were compared with matched patients who were CD in 3-year age groups (950 control subjects). RESULTS: Patients as old as 6 years who underwent NBS had significantly greater median height z-scores, less severe Northern chest radiography scores, better Shwachman-Kulczycki scores, and lower rates of chronic Pseudomonas aeruginosa infection. No difference was found for weight z-score or % predicted forced expiratory value in 1 second or forced volume capacity. Nutritional benefit was demonstrated in patients who underwent NBS and were homozygous for the DeltaF508 mutation. CONCLUSIONS: NBS segregates with better outcomes in patients as old as 6 years compared with age- and gene-matched control subjects who are CD. This cross-sectional study shows that infants who undergo screening derive nutritional benefit in improved median height and reduced morbidity.
Asunto(s)
Fibrosis Quística , Tamizaje Neonatal/organización & administración , Factores de Edad , Estatura , Niño , Trastornos de la Nutrición del Niño/etiología , Preescolar , Estudios Transversales , Fibrosis Quística/complicaciones , Fibrosis Quística/diagnóstico , Fibrosis Quística/terapia , Diagnóstico Precoz , Volumen Espiratorio Forzado , Genotipo , Homocigoto , Humanos , Lactante , Recién Nacido , Estado Nutricional , Evaluación de Resultado en la Atención de Salud , Infecciones por Pseudomonas/etiología , Sistema de Registros , Infecciones del Sistema Respiratorio/etiología , Estudios Retrospectivos , Índice de Severidad de la Enfermedad , Reino Unido , Capacidad VitalRESUMEN
OBJECTIVES: To determine whether the improved clinical status after newborn screening (NBS) for cystic fibrosis (CF) segregates with increased therapeutic intervention compared with presentation by clinical diagnosis (CD). STUDY DESIGN: In 2002, two populations (1 to 9 years of age) who presented (excluding meconium ileus) by NBS < or = 3 months of age or by CD were compared in an observational, cross-sectional design. NBS and CD populations (184 and 950 patients, respectively) were divided into 3-year age groups (1 to 3, 4 to 6, and 7 to 9 years). Therapies of duration >3 months were compared together with Pseudomonas aeruginosa infection status. RESULTS: NBS patients < or = 6 years of age received significantly fewer and less demanding therapies not explained by age, genotype, geography, or social deprivation. In 7- to 9-year-olds, significantly fewer NBS patients received intravenous antibiotics. NBS patients without P aeruginosa infection received significantly fewer therapies, but no differences were found between intermittently or chronically infected NBS and CD populations. Comparable results were found in deltaF508/deltaF508 subpopulations. CONCLUSIONS: CF populations diagnosed by NBS are associated with reduced treatment compared with age- and genotype-matched CD control subjects.
Asunto(s)
Fibrosis Quística/diagnóstico , Fibrosis Quística/terapia , Atención a la Salud , Tamizaje Neonatal , Estudios de Casos y Controles , Niño , Preescolar , Estudios Transversales , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Cuidados a Largo Plazo , Reino UnidoRESUMEN
Overweight (9%) and obesity (1%) in patients with cystic fibrosis homozygous for the deltaF508 mutation (CFdeltaF508) were non-trivial. Children with CFdeltaF508, in contrast to the general population, showed a positive association between body mass index and lung function for all body mass index z-scores.