Pediatrics 5th year, 7th lecture/part one (Dr. Adnan)

Cystic fibrosis Dr. Adnan Hamawandi Professor of pediatrics

Cystic fibrosis
Is a disease of the exocrine glands that causes viscid secretions. The gastrointestinal and respiratory systems are the most commonly and most severely affected.
It is inherited as autosomal recessive trait by a gene located on chromosome 7. The most common mutation is an absence of three base pairs that encode for the amino acid phenylalanine(∆ F 508).

Cystic fibrosis
The abnormal protein that the gene encodes is the chloride channel Cystic Fibrosis Transmembrane Regulator (CFTR).
In the cell membrane these channels are blocked so that chloride ion is trapped inside the cell and draws sodium ions and water into the cell resulting in dehydration of mucus secretions and abnormal ion and water environment surrounding the cell.

Cystic fibrosis Clinical features
Clinical presentation of CF vary considerably, Neonatal presentation may be with 1.muconium ileus.
2. prolonged jaundice.
3.part of prenatal workup or neonatal screening.
The most common manifestations are Respiratory: repeated chest infections with staph.aureus, pseudomonas auerogenosa and
H. infleunzae leading to progressive lung disease with

Bronchiaectasis, clubbing, abscess formation, hemoptysis and eventually Cor pulmonale.
Gastrointestinal : Malabsorption of fat and protein due to pancreatic insufficiency and abnormal mucus gland secretions in the GI tract occur in 90% of patients, this results in fatty stools, fat soluble vitamin deficiencies, failure to gain weight and retarded growth. Rectal prolapse, biliary cirrhosis, and portal hypertension may complicate the disease.

Metabolic: Frank diabetes occur in 2% of children with CF. Salt depletion can occur as a result of hot climate.
Arthropathy: Reduced joint mobility with pain occur in 1-2% of children with CF.
Reproductive: Virtually all males are sterile and females have reduced fertility.
Nasal: chronic sinusitis is seen in all patients and nasal polyps occur in 5% of all patients.

Cystic fibrosis Diagnosis
Diagnostic criteria for CF include:
Positive sweat test.
Typical pulmonary manifestations.
Typical gastrointestinal manifestations.
Positive family history.
The sweat test is positive if the chloride concentration of sweat exceeds 60meq./L.

Cystic fibrosis Diagnosis
DNA testing is available for the 150 common CF mutations. The indications are:
If adequate amount of sweat for analysis cannot be collected.
If sweat test results are borderline.
If sweat test results do not correlate with the clinical symptoms.
For prenatal diagnosis.

Cystic fibrosis Therapy
Treatment of respiratory problems :
A. Antibiotics
1. oral: antistaphylococcal
2. aerosolized aminoglycoside
3. Intravenous therapy for 10-21 days in cases of pneumonia, aminoglycoside and semi synthetic penicillin or a third generation cephalosporin.
B. Other drugs bronchodilators, mucolytics and steroids can be used.

C. Chest physiotherapy like breathing exercises, postural drainage, and active cycles of breathing to aid the clearance of viscid secretions.
Treatment of digestive problems
1. pancreatic enzymes before each meal.
2. high calorie, high protein diet.
3. vitamin supplementation specially fat soluble ones.
4. stool softener
5. Antacid and H2 receptor antagonists.

Treatment of complications
like muconium ileus by surgery or muconium ileus equivalent by acetylcysteine enemas or pneumothorax by chest tube.

Pediatrics 5th year, 7th lecture/part one (Dr. Adnan)

by College of Medicine, Sulaymaniyah

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