PHTY304 Lecture Notes - Lecture 12: Meconium, Bone Density, Lumacaftor
Document Summary
Genetic life-limiting disorder inherited through an autosomal recessive pattern in which 2 copies of the gene affecting chromosome 7 are passed on from both parents. Progressive, disease causing persistent lung infections, limits the ability to breathe over time. Mutation of cftr protein on chromosome 7 resulting in abnormal chloride transport, reduced secretion of chloride, increased reabsorption of water and sodium which alters mucosal layer and epithelial cells. Submucosal gland hypertrophy, increased globet cells, cyst formation, airway wall destruction (bronchiectasis) Excessive thickened mucus, poor clearance, retained secretions and infection, widespread lung involvement, chronic disease with acute exacerbation, deterioration with age. X-ray: bronchial wall thickening in upper zones, hi (ill-defined nodular shadows), bronchiectasis cor polmonale. Bone disease from low bone mineral density, accelerated rate of bone loss, delayed growth in first 6 weeks, high # rates, vertebral #, osteopenia, Op, increased tx kyphosis, tight muscles (pecs, shoulders, postural muscles), shoulder flexion, neck flexion, rheumatic symptoms e. g. joint pain, swelling, stiffness, short stature.
