Cystic Fibrosis Disease
About Gene:
A rare genetic disorder caused by the mutation of the CFTR gene that is a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel. It affects mucus production by making mucus thick and glue-like, which blocks tubs and ducts throughout the body.
Number of Patients: 0
Disease Causing Genes:
Sign and Symptoms:
- Chronic wet cough
- Respiratory distress
- Digital-clubbing
- Mucopurulent-sputum
- Crepitation
- Bronchiectasis
- hyperinflation/peribronchial-thickening
- Pan-sinusitis
- Malabsorption
- high sweat-chloride
Diagnosis:
(1) Sweat chloride testing (2) Chest Radio imaging (3) Bacteriological C/S of sputum (4) Mutation analysis
Preventions:
Treatment:
counseling about the disease airway clearance technique antibiotics anti-inflammatory agents mucolytics pancreatic enzyme replacement calcium, multivitamins, and nutritional support nebulized bronchodilators