Geschichtlicher Abriss der Mukoviszidose

Cystic fibrosis (CF), also known as mucoviscidosis, when untreated is a life-limiting multisystemic disease of exocrine glands with autosomal recessive inheritance. It is caused by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. The most frequent mutation, the 3bp deletion p.Phe508del, emerged about 50,000 years ago in modern humans of the North Africa-Asia Minor-Eurasia populations and spread in several waves in Europe particularly north of the Alps. The symptoms of CF have been sporadically described in the medical literature since the seventeenth century but it took until the 1930s when the Swiss pediatrician Fanconi and the American pathologist Andersen defined the disease entity. During the subsequent decades the foundations of the symptom-oriented empirical treatment programs were gradually developed and transformed the fatal disease in infancy and early childhood into a chronic disorder of children, adolescents and young adults. The causative defective CFTR gene was discovered in the 1980s. Since 2020 most people with CF can be treated with CFTR modulators. This life-changing treatment attenuates symptoms and the typical disease progression so that early initiation will potentially enable patients with CF to achieve near-normal life expectancy.