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Flashcards in Cystic fibrosis Deck (10):

cystic fibrosis

-most common genetic disorder in caucasians
-multisystem disorder affecting primarily the pulm and gi tract
-life expectancy in early 40s


CF inheritance

autosomal recessive. carriers are generally healthy


etiology of CF

cystic fibrosis transmembrance conductance regulator gene (CFTR). protein is a chloride channel at the cell membrane. also aids sodium absorption regulation, therefore affecting water balance of the cell. mutations change the structure of a protein or the proteins ability to reach the cell surface and function. diminished water at cell surface produces thick, sticky mucus.


CF manifestations

obstructive lung disease, chronic infection, brochiectasis, chronic sinusitis, nasal polyposis, liver disease, bowel obstruction, malnutrition, pancreatic insufficiency, diabetes, high cl in sweat


pulmonary disease of cf

persistent cough, wheezing, bacterial infections, pneumonia, bronchiectasis


pancreatic insuff/malabsorption of cf

meconium ileus, rectal prolapse, loose, foul smelling stools, excessive appetite along with poor weight, smaller than average height and weight gain, nutritional deficiencies, bowel obstruction


Salt loss syndromes cf

salty-tasting skin, chronic metabolic alkalosis, susceptibility to dehydration


other symptoms of cf

sinusitis, nasal polyps, male infertility, cf related diabetes, pancreatitis, liver disease, clubbed fingers


onset of cf symptoms

variable age, historically most dx by 4. common presenting symptoms respiratory infections, failure to thrive, loose stools, meconium ileus. malnutrition often by 2 months in typical cf.


diagnosing cf

Sweat test=gold standard. elevated chloride is diagnostic. positive is >60 mmol/L negative is