Notes in 10. Cystic Fibrosis

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Published	06/26/2023	introductionCF is an {{c1::autosomal recessive}} disorder caused by mutations of {{c1::both}} alleles of the gene located on chromosome {{c1…
Published	06/26/2023	introduction MC → {{c1::DF508}}, G542X, G551Dincidence → 1:3500 Newborns (whites) About 4-5% whites in north america are carriers of CF…
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Published	06/26/2023	what is deleted in many pts w/ CF? {{c1::phenylalanine 508}}
Published	06/26/2023	molecular defects of CFTR protein Class I → {{c1::no protein}} → affects protein synthesis, due to nonsense mutation Class II → {{…
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Published	06/26/2023	d2141e9351e6496ca6ef9130d8f882db-oa-3
Published	06/26/2023	diagnosis of CF new born screen → screening test only CF genetics gold standard for diagnosis → {{c1::sweat chloride}}nasal voltag…
Published	06/26/2023	newborn screen for CF IRT level >{{c1::57ng/dl}}
Published	06/26/2023	sweat chloride collection electrode drives medicine into skin sweat is collected on filter paper sweat is tested for {{c1::chlorid…
Published	06/26/2023	866cf70fd77e43e1a08702f43b095328-oa-1
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Published	06/26/2023	866cf70fd77e43e1a08702f43b095328-oa-3
Published	06/26/2023	CFTR-related metabolic syndrome health, hypertrypsinogenomic infant with: positive newborn screen w/ {{c1::IRT}} elevation <2 {…
Published	06/26/2023	68eb48a01d8047c998ac35d8ff3c613c-oa-1
Published	06/26/2023	68eb48a01d8047c998ac35d8ff3c613c-oa-2
Published	06/26/2023	notable → heart, liver manifestationsreproductive is cut off but many can't reproduce
Published	06/26/2023	Common CF pathogens in infants → {{c1::staph aureus/Hemophilus}}later in childhood → {{c1::Pseudomonas/MRSA}}other infections → stenotr…
Published	06/26/2023	rise in cases of {{c1::non-tuberculos mycobacterium}} in CF in last couple years
Published	06/26/2023	the cause of morbidity and mortality in most CF patients → {{c1::pseudomonas aeruginosa}}following initial, often intermittent episodes of infect…
Published	06/26/2023	lung disease in CF on exam tachypnea use of {{c1::accessory}} muscles increased {{c1::AP diameter}} of chest hypoxemia e…
Published	06/26/2023	lung disease in CF inflammation infection the most recognized hallmark of CF disease is {{c1::progressive obstructive lu…
Published	06/26/2023	lung disease in CF the combo of dessicated mucosal surface, infection, and host's inflammatory response leads to inspissation of airway debr…
Published	06/26/2023	CXR in early CF → {{c1::hyperinflated lungs}}
Published	06/26/2023	CXR in end stage lung disease in CF
Published	06/26/2023
Published	06/26/2023	other findings in CF{{c1::nasal polyps}}{{c1::digital clubbing}}
Published	06/26/2023	histology in CF bronchial wall showing inspissated mucus in the lumen of {{c1::papillary}} proliferation of the surface epithelium and dense unde…
Published	06/26/2023	lung biopsy exam of CF dilated and thickened {{c1::bronchi}} which extends to the {{c1::periphery}} of the lung and contains {{c1:…
Published	06/26/2023	in order to have CF, the child must have the gene from {{c1::both parents}}; if only one parent has the gene, they will be a {{c1::carrier}}
Published	06/26/2023	biopsy of pancreas dilated ducts filled with {{c1::gelatinous material}} there is fibrosis and {{c1::fatty}} change in the parench…
Published	06/26/2023	therapeutics for inflammation in CF goal → to reduce inflammation in CF lungs daily airway clearance {{c1::twice daily}}recommended to …
Published	06/26/2023	key factor in reducing progression of CF lung disease → {{c1::airway clearance}}CPT is a airway clearance technique to drain the lungsincludes pe…
Published	06/26/2023	Anti-inflammatory therapies {{c1::azithromycin}} in pts chronically infected w/ Pseudomonas recommended use → 3 times weekly, MWF Inhal…
Published	06/26/2023	treatment of acute exacerbation/infection Staph Aureus {{c1::Ampicillin}}Keflex Bactrim Pseudomonas {{c2::Ciprofloxacin}}plus…
Published	06/26/2023	prevention and eradication of initial Pseudomonas aeruginosa inhaled {{c1::tobramcyin}} 300 mg BID for 28 days for new growth of {{c1::…
Published	06/26/2023	median age of survival in CF in 2019 → {{c1::47 years}}
Published	06/26/2023	when patient's are chronically infected w/ Pseudomonas Inhaled Tobramycin {{c1::300mg daily q other month}}Inhaled Aztreonam {{c1::75mg…
Published	06/26/2023	nutrition in CF in CF nutritional deficiency is common due to {{c1::pancreatic insufficiency}} and malabsorption in newborns → {{c…
Published	06/26/2023	more nutrition in CF {{c1::fat soluble}} Vitamin replacement therapy fat malabsorption in pancreatic insufficient individuals leads to defic…
Published	06/26/2023	GI complications in CF because of single gene defect obstructive {{c1::jaundice}} in newborns focal biliary cirrhosis CF related l…
Published	06/26/2023	more GI complications in CF because of single gene defect CF related {{c1::diabetes}}Hyponatremic dehydration → Hyponatremic hypokalemic met…
Published	06/26/2023	in depth drugsIvacaftor → potentiator → keeps {{c1::CFTR gate open}} → first FDA approved modulator for G551D mutation. can be given at 1 month o…
Published	06/26/2023
Published	06/26/2023	"the magic drug"
Published	06/26/2023	transition to adult care from pediatric to adult CF center → transition occurs between ages 18-21 years OU has transition program → enrollem…
Published	06/26/2023	lung transplant when CF pt's Fev1 declines to {{c1::40%}} and does not improve despite current therapies and IV abx/evaluation of opportunis…
Published	06/26/2023	Gene therapy current work to provide a {{c1::correct copy}} of gene to treat CF gene therapy has shown signficant promise not just for CF, b…
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