CYSTIC FIBROSIS Flashcards
WHAT IS CYSTIC FIBROSIS ?
GENETIC DISORDER INHERITED IN AN AUTOSOMAL RECESSIVE MANNER.
WHAT DOES AUTOSOMAL RECESSIVE INHERITANCE IN CYSTIC FIBROSIS LEAD TO?
FAULTY TRANSPORTATION OF CHLORIDE IONS ACROSS THE EPITHELIAL CELLS.
WHAT GENE IS ASSOCIATED WITH CYSTIC FIBROSIS ?
CHROMOSOME 7
WHAT ARE THE CYSTIC FIBROSIS CLASSIFICATIONS? (HOW MANY CLASSES ARE THERE?
THERE ARE SIX CLASSES OF THE DISEASE VARYING IN SEVERITY.
OUT OF THE 6 CLASSES WHAT ARE THE MOST SEVERE?
1-3 IS THE MOST SEVERE
WHAT ARE THE MILDER CLASSES OF CYSTIC FIBROSIS?
4-6 ARE THE MILDER PULMONARY DIASEASE.
PATHOPHYSIOLOGY OF CYSTIC FIBROSIS?
A MUTATION IN THE CFTR GENE CAUSES ABNORMAL CFTR PROTEIN EXPRESSION.
WHAT ORGANS DOES CYSTIC FIBROSIS EFFECT?
HAS MULTIORGAN EFFECT INCLUDING THE AIRWAYS, DIGESTIVE TRACT AND REPRODUCTIVE ORGANS.
WHAT IS THE MOST COMMON MUTATION OF CYSTIC FIBROSIS ?
F508delCFTR
WHERE DO MOST SIGNS AND SYMPTOMS OF CYSTIC FIBROSIS SHOW? (WHAT SYSTEM(s))
RESPIRATORY
GASTROINTESTINAL
WHAT ARE THE RESPIRATORY SYMPTOMS?
PERSISTENT COUGH OR WHEEZE
EXCESSIVE SPUTUM
RECURRENT OR SEVERE PNEUMONIA
WHAT IS THE MOST SUBTLE RESPIRATORY TRACT PRESENTATION OF CYSTIC FIBROSIS ?
CHRONIC SINUSITIS
NASAL POLYPS
CAN PATIENTS WITH CYSTIC FIBROSIS EXPERIENCE DIGITAL CLUBBING AND IF SO WHEN WOULD THEY EXPERIENCE THIS?
MAY APPEAR EARLY IN THE ABSENCE OF SIGNIFICANT PULMONARY IMPAIRMENT.
CAN PATIENTS WITH CYSTIC FIBROSIS GET A BARREL CHEST? WHAT ABOUT THE CRACKLES?
YES THEY CAN SUFFER WITH A BARREL CHEST AND PERSISTENT CRACKLES HOWEVER THIS TENDS TO COME MUCH LATER IN THE DISEASE.
IS THE SEVERITY OF CYSTIC FIBROSIS VARIABLE ?
YES HIGHLY VARIABLE
