Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

Cystic Fibrosis (Mucoviscidosis, CF)

Dr. rer. biol. hum. Soheyla Chahrokh-Zadeh

Scientific Background

Cystic fibrosis (CF) or mucoviscidosis is the most common autosomal recessive inherited disease in Caucasians (incidence approx. 1:2,500, carrier frequency approx. 1:25). Those affected suffer from pulmonary symptoms (frequent bronchopulmonary infections, persistent bronchiectasis) as well as gastrointestinal symptoms (pancreatic insufficiency, pancreatitis, meconium ileus prenatal or in newborns) and male infertility. The disease is caused by pathogenic mutations in the CFTR gene (cystic fibrosis transmembrane conductance regulator), which leads to chloride channel malfunctions in the apical membrane of glandular epithelium and thereby, to changes in the salt content of sweat and other bodily secretions.

In many populations, the most frequently detected pathogenic CFTR mutation is p.Phe508del (F50del). The further > 2000 currently known pathogenic changes in the CFTR gene occur much less frequently. Depending on the type and severity of the CFTR mutations, the disease can be expressed differently. As well as classical, early onset and multisystemic CF, less severe, monosymptomatic forms under the umbrella term CFTR-RD (related disease) have been described. These include disseminated bronchiectasis, atypical chronic rhinosinusitis, chronic pancreatitis and CBAVD (congenital bilateral aplasia of the vas deferens). With respect to the optimal care of patients, an early diagnosis is of great importance. Molecular genetic diagnostics to confirm the clinically suspected diagnosis and determine the CFTR genotype can decisively influence the choice of therapy later on. CFTR diagnostics has been part of neonatal screening since 2016.


Goetz et Ren 2019, Pediatr Ann 48: e154-e161 / Wiencek et Lo 2018, Clin Chem 64: 898-908 / Sosnay et al. 2017, J Pediatr 181S: S52-S57 / Farrell et al. 2017, J Pediatr 181S: S4-S15 / Dequeker et al. 2009, Eur J Hum Genet 17: 51-65 / Castellani et al. 2008, J Cyst Fibros 7: 179 / Ogino et al. 2004 J Med Genet 41: e70-e70 / Steiner et al. 2004, Hum Mutat 24: 120 / Bobadilla et al. 2002, Hum Mutat 19: 575 / Claustres et al. 2000, Hum Mutat 16: 143