Eureka! Institutional Repository

Cystic fibrosis is the most common hereditary disease in children. It was first described by pediatrician Faconi in 1928. It is caused by a mutation in a gene found on chromosome 7 that results in the production of a defective protein of CFTR. The disease is transmitted with an autosomal recessive nature and mainly affects the respiratory system. Diagnosis is made by prenatal screening and sweat test. Cystic fibrosis is an incurable disease and aims to treat respiratory infections. Physiotherapy has proven to be an active contributor to the treatment. Learning to breathe properly in combination with cough and exercise offers a better quality of life for the patient. This is also helped by special devices, which are also fun when used by children. Finally, the psychology of the patient facing cystic fibrosis is important. This is helped by the family and social environment, as well as the physiotherapist himself. The role of the physiotherapist in addition to counseling for treatment is also communicative, as it undoubtedly remains an integral part of the patient's life. Today, scientists have a more complete picture of the mechanism of action of the disease, which can contribute to the development of improved and targeted therapies.