Sunday, March 15, 2015
Cystic fibrosis
Most common lethal genetic disorder
ii. Pancreas
Diagnosis
i. Sweat test (elevated NaCl)
ii. DNA probes
Treatment
Prognosis
i. Mean survival: 30 years
ii. Most common cause of death is pulmonary infections
Defect: mutation of the chloride channel protein, cystic fibrosis trans-membrane conductance regulator (CFTR)
Genetics
i. CFTR gene is located on chromosome 7
ii. Most common mutation is a deletion in amino acid position 508 (AF508)
Pathogenesis:
- defective chloride channel protein leads to abnormally thick viscous mucous, which obstructs the ducts of exocrine organs
Distribution of disease
i. Lungs
- Recurrent pulmonary infections with P. aeruginosa and S. aureus .
- Chronic bronchitis
- Bronchiectasis
ii. Pancreas
- Plugging of pancreatic ducts results in atrophy and fibrosis
- Pancreatic insufficiency
- Fat malabsorption
- Malodorous steatorrhea
- Deficiency of fat-soluble vitamins
iii. Male reproductive system
- Obstruction of the vas deferens and epididymis
- May lead to male infertility
iv. Liver:
- plugging of the biliary canaliculi may result in biliary cirrhosis
v. GI tract:
- small intestinal obstruction (meconium ileus)
Diagnosis
i. Sweat test (elevated NaCl)
ii. DNA probes
Treatment
- Chest Physiotherapy
- Antibiotics
- Mucolytics : N-acetylcysteine
- Gene therapy
Prognosis
i. Mean survival: 30 years
ii. Most common cause of death is pulmonary infections
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