HTHSCI 1DT3 Lecture Notes - Lecture 18: Wild Type, Genetic Counseling, Sweat Test
13 Aug 2020
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Document Summary
Mod. 2-2 & 1-13, 14 cystic fibrosis (cf) 12. Give rise to chronic supportive lung disease characterised by bronchitis, chronic cough with sputum production, bronchiectasis, obstructive lung disease with gas trapping on pulmonary function testing and ultimately respiratory failure: growth, nutrition and the gut. Outcome in terms of early growth potential lies between pancreatic sufficiency and pancreatic insufficiency (lead to meconium ileus) and later in terms of lung function and survival. In addition, there are possibilities of non-recoverable pulmonary and nutritional compromise, which favours early intervention trials. Nbs babies were less likely to have positive bacteria culture of airway specimens, although there are contrary views. In addition, the most common bacterial pathogens are age 5 included haemophilus influenzae, staphylococcus aureus and pseudomonas aeruginosa. Early intervention strategies have the potential to maintain or improve lung function aimed at minimising inflammation and infection: deterioration in cxr scores has favoured patients diagnosed on nbs over those diagnosed clinically through the use of schwachman score.
