BIOM30002 Lecture 19: T4_L19_summary
12 Jun 2018
School
Department
Course
Professor
Topic 4 – Cystic Fibrosis
L19 Intro: living with CF
Cystic fibrosis (CF)
- Common inherited disorder
- Variable severity – severe forms have poor prognosis – no cure at present
- Improvements in treatment have resulted in increased lifespans
- Death usually due to respiratory failure/cardiac complications
- Multiple systems affected:
1. Respiratory: lung is primary target
2. Digestive
3. Reproductive
- All affected by production of excessively thick, dehydrated, secretions of mucus
- Caused by failure of salt (Cl-) and subsequently water transport by epithelial cells lining ducts
Clinical features: respiratory
- Frequent coughing (1)
- Chronic infections (2)
- Lung damage – scar (3)
- Due to:
1. Obstruction of bronchioles by mucus
2. Colonisation by bacteria, especially antibiotic resistant strains (pseudomonas)
3. Damage (fibrosis) caused by inflammatory responses
Clinical features: digestive
- Failure to thrive
- Chronic malabsorption
- Due to:
1. Blockage of various intestinal and pancreatic ducts by mucus
2. Poor digestion of fats (mainly) and proteins
- Intestinal obstruction in newborns ( “meconium ileus” 15% of neonates with CF)
- “Pancreatic insufficiency” (85% of patients)
- Chronic pancreatitis (& diabetes, 40% of adults), liver disease (>= 5%)
Clinical features: reproductive
- Infertility in males
- Sub-infertility in females
- Due to:
1. Blockage of vas deferens in males, leading to fibrosis or usually atrophy: congenital
bilateral absence of the vas deferens (CBAVD)
2. Cervical mucus in females acting as barrier to passage of sperm
3. Females may be anovulatory (no oocytes released)
Document Summary
Variable severity severe forms have poor prognosis no cure at present. Death usually due to respiratory failure/cardiac complications. Improvements in treatment have resulted in increased lifespans: respiratory: lung is primary target, digestive, reproductive. All affected by production of excessively thick, dehydrated, secretions of mucus. Caused by failure of salt (cl-) and subsequently water transport by epithelial cells lining ducts. Lung damage scar (3: obstruction of bronchioles by mucus, colonisation by bacteria, especially antibiotic resistant strains (pseudomonas, damage (fibrosis) caused by inflammatory responses. Due to: blockage of various intestinal and pancreatic ducts by mucus, poor digestion of fats (mainly) and proteins. Intestinal obstruction in newborns ( meconium ileus 15% of neonates with cf) Chronic pancreatitis (& diabetes, 40% of adults), liver disease (>= 5%)
