What causes cystic fibrosis

Jan 13,2025

Cystic fibrosis is mainly caused by the following three reasons:

1. Gene mutations: Cystic fibrosis is mainly caused by mutations in two genes, namely PKD1 and PKD2 genes. Mutations in these genes can cause abnormal enlargement and increase of cystic spaces in the kidneys and other organs, leading to diseases. Cystic fibrosis also involves mutations in the genes regulating the transmembrane transport of cystic fibrosis, leading to dysfunction of regulatory factors and causing multi system lesions.

2. Genetic factors: Cystic fibrosis is a recessive genetic disease that is usually passed down from parents to children. If there is a parent with cystic fibrosis, the risk of their child developing the disease will increase. Infants carrying recessive genes account for 2% to 5% of the total number of newborns, with an average of one in every 2000 to 2500 infants.

3. Environmental factors: Although cystic fibrosis is mainly caused by genetic mutations, certain environmental factors may also have an impact on the development of the disease. For example, hypertension, kidney infections, and other kidney diseases may accelerate the progression of cystic fibrosis. However, compared to genetics and genetic mutations, the role of environmental factors in the pathogenesis of cystic fibrosis is relatively small.

The main causes of cystic fibrosis are gene mutations and genetic factors, while environmental factors may to some extent affect the progression of the disease. Understanding these reasons is crucial for early diagnosis and treatment of diseases.