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CR - CF (i) (Presentation (resp disease (decreased mucociliary clearance,…
CR - CF (i)
Presentation
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pancreatic insufficiency
DM (not type 1 or 2, insulin dependent)
risk increases with age (most are born with some endocrine pancreatic function which declines over time)
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osteoporosis (low bone mineral density, asymptomatic - no pathological fractures, significance unknown)
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nasal polyps
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common in normal adults, but if in a child they have CF
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exacerbation symptoms
even more coughing + sputum (increased vol, purulence + viscidity)
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Dx
clinical features OR sibling with it OR +ve newborn screening (check blood for raised immunoreactive trypsinogen-IRT, made by pancreas, in Ire since 2012)
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+ve sweat test (measure conc of chloride in sweat) OR +ve nasal potential difference (measure voltage across nasal epithelium) OR 2 identifiable CFTR mutations
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future Tx
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newer forms of existing drugs (antiinflamms, antibiotics, airway clearance meds)
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