BIOM30002 Lecture Notes - Lecture 19: Cystic Fibrosis, Hematopoietic Stem Cell Transplantation, Pancreatic Duct
Document Summary
Experience of living with cf, a chronic and life-limiting condition. Variable severity - severe forms have poor prognosis. No real cure at present, perhaps other than a bone marrow transplant. Improvements in treatment have resulted in increased lifespans. Defective gene that codes for chloride channels causes failure of water transport by epithelial cells lining ducts - decreased hydration of the mucus. All affected by production of excessively thick, dehydrated, secretions of mucus. Frequent coughing due to obstruction of bronchioles by mucus. Chronic infections by bacterial colonies, especially antibiotic resistant strains. Blockage of various intestinal and pancreatic ducts by mucus. Intestinal obstruction in newborns ("meconium ileus"; 15% of neonates with cf) Chronic pancreatitis (and diabetes, 40% of adults), liver disease (>5%) Blockage of vas deferens, leading to fibrosis or usually atrophy. Congenital bilateral absence of the vas deferens (cbavd) Cervical mucus acting as barrier to passage of sperm. Not uncommon to be unaware of a family history given it is recessive.
