Cystic fibrosis (CF): systemic features

Genetics

• It is caused by CFTR gene mutations on chromosome 7
• CFTR is an anion channel ATP ion binding cassette transporter
• It is responsible for transporting bicarbonate and chloride across cell membranes
• There are more than 1,800 reported mutations
• The most frequent mutation is the ΔF508 mutation
• The transmission is autosomal recessive

References

1. Reznikov LR. Cystic fibrosis and the nervous system. Chest 2017; 151:1147-1155.
2. Roy B, Woo MS, Vacas S, Eshaghian P, Rao AP, Kumar R. Regional brain tissue changes in patients with cystic fibrosis. J Transl Med 2021; 19:419.
3. Ziegler B, Perin C, Casarotto FC, Fagondes SC, Menna-Barreto SS, Dalcin PTR. Pulmonary hypertension as estimated by Doppler echocardiography in adolescent and adult patients with cystic fibrosis and their relationship with clinical, lung function and sleep findings. Clin Respir J 2018; 12:754-761. 
4. Mohan K, Miller H, Dyce P, Grainger R, Hughes R, Vora J, Ledson M, Walshaw M. Mechanisms of glucose intolerance in cystic fibrosis. Diabet Med 2009; 26:582-588.
5. Al Lawati NM, Wilcox P. Paradoxical embolization in an adult cystic fibrosis patient. Can Respir J 2007; 14:293-294. 
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Related checklists

• Cystic fibrosis (CF): neurological features
• Cystic fibrosis (CF): management