Genetic basis and clinical features of selected genetic disorders
Cystic Fibrosis - CFTR gene mutation leading to thick mucus production, respiratory and digestive system complications
Cystic fibrosis is a genetic disorder caused by CFTR mutations, leading to thick mucus and complications in the respiratory and digestive systems.
Genetic Basis and Clinical Features of Cystic Fibrosis
Introduction
Cystic fibrosis (CF) is a genetic disorder caused by mutations in the CFTR gene, leading to thick mucus buildup in the respiratory and digestive systems.
Genetic Basis
The CFTR gene regulates chloride ion transport across epithelial cells. Mutations cause dysfunctional ion channels, leading to mucus accumulation.
Clinical Features
- Respiratory complications: Chronic cough, lung infections, and breathing difficulties.
- Digestive issues: Malabsorption, pancreatic insufficiency, and intestinal blockages.
- Other symptoms: Infertility in males, salty skin, and clubbed fingers.
Diagnosis and Treatment
Diagnosis involves genetic testing and sweat chloride analysis. Treatment includes airway clearance therapies, enzyme supplementation, and novel CFTR modulators.
Conclusion
Advancements in genetic research continue to improve CF treatment outcomes, offering hope for individuals with this condition.
Tags
Recommended Reads
Explore related articles that might interest you
Development and Congenital Anomalies of the Diaphragm
Applied Anatomy of the Venous System of the Lower Limb
Boundaries and Clinical Significance of the Piriform Fossa
Anatomical basis of venipuncture in the cubital veins
Identification and histological structure of lymphoid tissues (lymph nodes, spleen, thymus, and tonsils)
Structural and Functional Features of Skin and Fascia
