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In the name of God
Cystic Fibrosis
Presenter:Amir RezagholizadehMaster student of Medical Physiology, Shahid Beheshti Medical University, Tehran, [email protected]
Outline• Introduction• History• Epidemiology• Cause• Pathophysiology• Symptoms• Diagnosis• Treatment• References
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.
Historical Timeline
1938
1965
1965
19851989
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
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
Cause
cystic fibrosis transmembrane conductance regulator (CFTR):• Gene on 7q• 27 exons code for 1480 amino acid protein
Cause
The CFTR chloride channel• chloride channel• Member of ABC family of transporters• CFTR also regulates epithelial sodium channel
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
Pathophysiology
• Most of the damage in CF is due to blockage of the narrow passages of affected organs with thickened secretions.
Lung:Pathophysiology
Lung:Pathophysiology
PancreasPathophysiology
Sweat gland
Pathophysiology
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
Chronic infections in lung:• Staphylococcus aureus, Haemophilus influenzae, Pseudomonas aeruginosa• Aspergillus fumigatus
Symptoms
Sinuses• Infection• Nasal polyp
Symptoms
Gastrointestinal• meconium ileus • rectal prolapse• pancreatitis• malabsorption• coagulation disorder• cirrhosis
Symptoms
Endocrine• cystic fibrosis-related diabetes• osteoporosis• clubbing
Infertility• 97% of men • 20% of women
Symptoms
Cystic fibrosis may be diagnosed by many different methods including • newborn screening • sweat testing• Pulmonary function testing (PFT)• CT CHEST• genetic testing
Diagnosis
Newborn screening Immunoreactive Trypsinogen Test (IRT)
Sweat testing
Diagnosis
Pulmonary function testing (PFT)• Standard spirometry may not be reliable until patients are aged 5-6 years.
Diagnosis
Pulmonary function testing (PFT)Diagnosis
CT
genetic testing
Diagnosis
• Antibiotics• Mucolytics• Bronchodilators• Anti inflammatory• Lung transplantation• GI & Nutrition-management
Treatment
Antibiotic• three way to give antibiotics• 1.intravenous
2. oral
3. aerosolized form
Treatment
Mucolytics• hypertonic Saline
Bronchodilators• beta adrenergic
Anti inflammatory• glucocorticoids
Lung transplantation
Treatment
GI & Nutrition-management• Replacement pancreatic enzyme • replacement of fat soluble vitamins(A, D ,E ,K)• insulin
Treatment
References• Cystic fibrosis
(PMCID: PMC2137053)• [Cystic fibrosis--review].
(PMID:19182319)• http://emedicine.medscape.com/article/1001602-overview• http://
www.mayoclinic.org/diseases-conditions/cystic-fibrosis/basics/definition/con-20013731
• https://ghr.nlm.nih.gov/condition/cystic-fibrosis• https://en.wikipedia.org/wiki/Cystic_fibrosis
Thank you for your attention
