Cystic fibrosis in young children: A review of disease manifestation, progression, and response to early treatment

•We have reviewed published studies of young children with CF (birth to 6 yrs of age)•125 different studies from Europe, Asia, the Americas, and Oceania were included•CFTR dysfunction as well as respiratory and GI complications were catalogued•A majority of very young CF children had evidence of multi-organ disease progression

BackgroundStudies have described illness associated with cystic fibrosis (CF) early in life, but there is no comprehensive accounting of the prevalence and ages of disease manifestation and progression described in individual studies.MethodsWe searched for peer-reviewed English-language studies of the health of children ≤ 6 years old with CF (published 1990-2014). Structural abnormalities and dysfunction of the digestive and respiratory systems were summarized across relevant studies by system and age group.ResultsPrimary studies (125 total) from 22 countries described abnormalities, dysfunction, and disease progression in infancy and early childhood. Improved health was consistently observed in association with diagnosis via newborn screening compared with cohorts diagnosed later by symptomatic presentation.ConclusionsThe peer-reviewed literature is remarkably consistent: CF-associated growth impairment and airway abnormalities are reported at birth, and disease progression is reported in infancy and throughout childhood. Earlier access to routine CF management is associated with improved subsequent health status.

Graphical abstractDownload high-res image (312KB)Download full-size image