Genetics and Environment Influence Early-Onset Lung Problems in Children with Cystic Fibrosis

Genetics and Environment Influence Early-Onset Lung Problems in Children with Cystic Fibrosis

Both genetic factors and environmental factors can determine how early lung problems develop in children with cystic fibrosis (CF), according to a recent study. Children with CF often experience thick and sticky mucus in their airways, resulting in difficulties in breathing and frequent lung infections.

The study used a scoring system called CF Early-onset Lung Disease (CFELD) to assess lung problems in children with CF by the age of 3. The researchers found that approximately half of the children already showed signs of lung problems by that age.

The study discovered that genetic factors and environmental exposures work together to manifest these lung problems early. The researchers noted that environmental factors are just as important as genetic predisposition.

The research involved 104 children diagnosed with CF by the age of 3 months and followed until they turned 3 years old. The severity of lung problems was categorized using the CFELD score, ranging from asymptomatic to severe.

Results showed that only 6% of the children were asymptomatic, while the rest had varying degrees of lung problems. The presence of a specific CF-causing mutation, F508del, and other mutations linked to pancreatic insufficiency were associated with higher CFELD scores. Children with a lower polygenic risk score, indicating worse lung function, were more likely to have moderate or severe lung problems.

Notably, the study also revealed the influence of environmental factors on CF lung problems. Children from families with higher and stable incomes, with both parents involved and mothers who attended at least community college, had lower chances of severe lung problems. Better nutrition at birth and at age 3 were also linked to a lower risk of severe lung problems.

On the other hand, exposure to smoke and spending more than 20 hours a week in daycare were both associated with more severe lung problems. Attending daycare was also linked to an increased risk of pulmonary exacerbation.

The study concludes that both genetic and non-genetic factors, including social and environmental factors, contribute significantly to the development of early-onset lung disease in children with CF. The researchers emphasize the need to reduce the risk associated with these environmental factors to potentially improve outcomes for children with CF.

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