Cystic fibrosis
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Cystic Fibrosis, Pathophysiology and Treatment
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Cystic fibrosis
- 1. Cystic Fibrosis Basant Raj Joshi Junior Clerkship, Pediatrics PAHS-SOM, 2015-08-09 June20,2016CysticFibrosis 1
- 2. What is cystic fibrosis? • Most common life limiting inherited disease • Autosomal Recessive • More common in Caucasian population; 1/2500 in UK • African Americans: 1/15000 • Asian Americans: 1/31000 • Indian population in UK: 1/11000 June20,2016CysticFibrosis 2
- 3. Etiology • Mutation in the gene encoding chloride conductance channel, CFTR (CF Trans-membrane Conductance Regulator) • The failure of chloride conductance by epithelial cells leads to dehydration of secretions that are too viscid and difficult to clear – favors recurrent bacterial infections • The defective gene is located at the long arm of 7th chromosome • Most common mutation is delta-F508 June20,2016CysticFibrosis 3
- 7. Clinical Features • The features depend upon age of diagnosis and treatment received • Higher the age, more are the symptoms/complications June20,2016CysticFibrosis 7
- 8. • The common clinical features include: • Meconium ioleus in neonatal period • Recurrent bronchiolitis in infancy and early childhood • Recurrent LRTI June20,2016CysticFibrosis 8
- 9. • Chronic lung disease • Bronchiectasis • Steatorrhea • Pancreatitis • Azoospermia • Failure to thrive June20,2016CysticFibrosis 9
- 11. Age-wise clinical features Age group, symptoms proportion 0-2 years Meconium ileus 10-15% Obstructive jaundice Hypoproteinemia anemia Bleeding diathesis Hyponatremia Steatorhea 85% Rectal prolapse 20% Bronchitis or bronchiolitis Staphylococcal pneumonea June20,2016CysticFibrosis 11
- 12. 2-12 years Malabsorptiion 85% Recurrent pneumonia 60% Nasal polyposis 6-36% Intususception 1-5% June20,2016CysticFibrosis 12
- 13. >12 years Chronic pulmonary disease 70% Clubbing Abnormal glucose tolerance 20-30% Diabetes mellitus 7% Chronic intestinal obstruction 10-20% Focal biliary cirrhosis Portal hypertension 25% Gall stones 4-14% Azoospermia 98% June20,2016CysticFibrosis 13
- 15. Diagnosis • From clinical picture: • h/o inherited diseases in the family members • Lab: confirmatory • Sweat chloride test: >60mEq/L on at least 2 occasions • Identification of CF mutation (genotyping) • Demostration of mutated chloride channel in epithelial cell June20,2016CysticFibrosis 15
- 17. Common infections • Staph aureus in children • Pseudomonas aeruginosa in adults June20,2016CysticFibrosis 17
- 19. Management • Includes respiratory management • Nutritional care • Early diagnosis of liver disease, DM, and other organ dysfunction June20,2016CysticFibrosis 19
- 20. Respiratory management • Includes • Airway clearance techniques • Antibiotics and antiinflammatory agents • Azithromycin, tobramycin June20,2016CysticFibrosis 20
- 22. Nutrition management • Includes • Increasing caloric intake • Frequent feeding • Nadogastric tube feeding (in case of infection-low appetite) • Supplement of fat soluble vitamins twice the recommended dose • Oral supplement of pancreatic digestive enzymes June20,2016CysticFibrosis 22
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