PEDS - CF Flashcards
What is the inheritance pattern for CF? What is the chromosome where the mutation is?
AR
Chromosome 7 long arm
What is the gene mutation in CF and what does the protein do that the gene codes for?
CFTR gene.
Protein that functions as a cAMP regulated chloride channel
What is the most commonly affected racial/ethnic group with CF?
AShkenazi Jew
Explain the autosomal recessive inheritance pattern for CF? What will the children be?
Mom and dad are carriers. So out of 4 kids, one kid will have CF, two will be carriers and one kid will not have CF or carry it.
Critical to know what about the CFTR mutations, a characteristic that has clinical implication?
They have poor penetrance so not all CF patients present the same way.
Two most common clinical presentations of CF include?
Chronic and progressive lung disease
Exocrine pancreatic insufficiency
What are the two most common pathogens causing infection in early childhood CF patients?
H influenza and staph aureus
What pathogen is most commonly infecting CF patients in the lungs as patients get older?
Pseudomonas
CF is what type of lung disease?
Obstructive
What are the two most common causes of death in CF patients?
Respiratory failure and right heart failure secondary to pulmonary HTN
What is a unique clinical sign in patients with CF and really in all patients with lung disease?
Clubbing
What GI problem is caused by CF in neonates?
Meconium ilueus
3 symptoms of meconium ileus?
Abdominal distention, can’t poop, bilious vomiting
What other GI problem can be caused by CF and what is the complication it leads to and how do we treat the complication?
Pancreatic insufficiency.
Malabsorption problems
Give supplements of fat soluble vitamins
What is the liver problem that can happen because of CF and what systemic problem can occur?
Obstructive cirrhosis
Diabetes
