4. Introduction
• Cystic fibrosis (mucoviscidosis) is a genetic disorder.
• Different people may have different degrees of symptoms.
• CF is inherited in an autosomal recessive manner.
• CF is most common among people of Northern European ancestry.
• There is no cure for cystic fibrosis.
5. Historical Timeline
1938
1965
1965
1985
1989
Carl von Rokitansky described a case of fetal death with meconium peritonitis.
Dorothy Hansine Andersen published an article, “Cystic Fibrosis of the Pancreas and Its Relation to Celiac Disease”.
Paul di Sant’Agnese discovered abnormalities in sweat electrolytes.
Cystic fibrosis was identified as an autosomal recessive disease.
The genetic defect for CF was located on chromosome 7.
The gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) was identified.
19th
6. Epidemiology
• Prevalence
• Life expectancy
Population
Caucasian (US)
Hispanic
African American
Native American
Asian (US)
Epidemiologic
1 in 1,900-3,700
1 in 8,000-9,000
1 in 15,300
1 in 40,000
1 in 10,000
8. Cause
The CFTR chloride channel
• chloride channel
• Member of ABC family of transporters
• CFTR also regulates epithelial sodium channel
9. Classes of cystic fibrosis-causing mutations
• Class I:- No synthesis of CFTR protein
• Class II:- Defective processing of CFTR protein
∆F508 (accounts for 66-70% CF cases)
• Class III:- Defective Regulation
• Class IV:- Defective Conductance
• Class V:- Reduced production of CFTR
Cause
10. Pathophysiology
• Most of the damage in CF is due to blockage of the narrow passages of affected
organs with thickened secretions.
15. Inflammation and infection cause injury and structural changes to the lungs
• In the early stages:coughing, copious sputum production, and decreased ability to
exercise are common.
• later stages:Bronchiectasis,hemoptysis, pulmonary hypertension, heart failure
,hypoxia, and respiratory failure
Symptoms
20. Cystic fibrosis may be diagnosed by many different methods including
• newborn screening
• sweat testing
• Pulmonary function testing (PFT)
• CT CHEST
• genetic testing
Diagnosis
