peds: cystic fibrosis

what is cystic fibrosis?

thick and study mucus thanks to the defective CTFR protein that keeps water and chloride stuck in the cells instead of thinning out the mucus

if both parents have a defective CFTR gene, what are the chances that the child will inherit the gene?

25%

how is cystic fibrosis diagnosed?

sweat chloride test (>60 mEq/L)

what are the gi symptoms of cystic fibrosis?

large, loose, fatty stools, weight loss, appetite changes

what is a newborn clue that may indicate cystic fibrosis?

meconium ileus (abdominal distension, vomiting, failure to pass stools)

what are the pulmonary symptoms of cystic fibrosis?

wheezing, dry cough, shortness of breath, barrel chest, cyanosis, clubbing, repeated pneumonia / bronchitis

what is the mainstay of treatment for cystic fibrosis?

chest physiotherapy

when must chest therapy be performed?

on an empty stomach (1-2 hours after a meal)

do lung transplants cure cystic fibrosis?

no, they just help prolong life

why does cystic fibrosis sometimes raise blood glucose levels?

the pancreas is so messed up from the thick and sticky blocked pancreatic ducts o it can't effectively secrete insulin

what diet do cystic fibrosis patients need?

high protein high calorie

what enzymes do cystic fibrosis patients need and when?

pancreatic enzymes before all meals and snacks

what supplements do cystic fibrosis patients need?

vitamin supplements (A, D, E, K)

is exercise or bed recommended for cystic fibrosis patients?

exercise

is weight gain or weight loss more likely in cystic fibrosis patients?

weight loss

what nasal deformity is common in cystic fibrosis patients?

nasal polyps

do patients with cystic fibrosis have strong bones or weak bones?

weak bones (vitamin D deficiency)