Cystic fibrosis is a common life-limiting autosomal recessive genetic disorder, with highest prevalence in Europe, North America, and Australia. It is a congenital multiorgan disease affecting mainly the lungs, liver, and pancreas. Frequent lung infections, hemoptysis, intolerance to exercise, presence of clubbing fingers suggesting pulmonary hypertension, rectal prolapse, and nasal polyps complete the clinical presentation. The mortality is mostly caused by bronchiectasis, small airways obstruction, and progressive respiratory impairment. Comorbidities are the result of epithelial cell dysfunction that occurs in the pancreas (malabsorption), liver (biliary cirrhosis), sweat glands (heat shock), and vas deferens (infertility). Although it is believed a rare disease, cystic fibrosis is recognized as one of the leading genetic disease causing life-shortening symptoms.
It was first fully described by Dorothy H. Andersen, an American pediatric pathologist, in 1938. However, there are indications that numerous medical reports have been provided as far back as 1595. The name “cystic fibrosis” refers to the characteristic fibrosis and cysts appearance that is found within the pancreas.
Cystic fibrosis is the most common life-limiting autosomal recessive disease among people of European heritage. In the United States, it is estimated that 30,000 individuals are affected with this medical condition. The onset of the disease begins at the age of 6 months. In Canada, about 4,000 people have the disease. The risk that one person carries the gene for CF in people of European descent is 1:25 and 1:30 for Caucasian Americans. It is believed that carriers of the gene for CF are approximately 1 in 46 Hispanics, 1 in 65 Africans, and 1 in 90 Asians carry at least one abnormal CFTR gene. The population with the highest prevalence for the disease are the Irish with an estimated 1:1,353. It is most common genetic disease associated with symptoms causing life-shortening conditions. The WHO indicates that cystic fibrosis is, in people living in the European Union, affecting 1 in 2,000 to 3,000 newborns. The prevalence of the disease in the United States is estimated at one in 3,500 children born with this medical condition. This is in contrast with an estimated prevalence of 1 in 15,000 African American children and 1 in 32,000 for Asian Americans. Cystic fibrosis is diagnosed in males and females equally. Males tend to have a longer life expectancy than females for unknown reasons. It is suggested that progesterone could render the manifestations of the disease worst.
Autosomal recessive. More than 1,000 mutations have been described on the long arm of chromosome 7 (7q21.3-7q22.1); the most frequent is ΔF508, which results in a defect of the CF transmembrane regulator protein called CFTR. The ΔF508 mutation is estimated to be up to 52,000 years old!