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
WILL SIBLINGS WITH THE SAME CFTR MUTATION, ENVIRONMENT AND TREATMENT PLAN HAVE DIFFERENT CLINICAL OUTCOMES AND EXPERIENCES ?
YES THEY WILL HAVE DIFFERENT CLINICAL OUTCOMES AND EXPERIENCES AS THEIR COURSE OF ILLNESS CAN VARY SIGNIFICANTLY.
WHAT AFFECTS DIFFERENCES IN CLINICAL SYMPTOMS AND WHAT DOES THIS CAUSE?
VARIATIONS IN HOW THE CFTR GENOTYPE IS EXPRESSED IN THE EPITHELIAL CELLS ACROSS VARIOUS ORGANS LEADS TO DIFFERENT CLINICAL SYMPTOMS WHICH AFFECTS THE PROGRESSION OF THE DISEASES AND THE SURVIVAL OF THE INDIVIDUAL.
WHAT OTHER COMPLICATIONS ARE THERE WITH CYSTIC FIBROSIS (HINT- NUTRITION AND PANCREATIC).
ISSUES WITH NUTRITION
90% OF CHILDREN HAVE SOME FORM OF PANCREATIC INSUFFICIENCY.
TREATMENTS FOR CYSTIC FIBROSIS
MONITORING GROWTH PARAMETERS.
CONTROLLING FAT MALABSORPTION
MAINTAINING ADEQUATE PROTEIN AND CALORIE INTAKE.
SUPPLEMENTATION WITH EXOGENOUS PANCREATIC ENZYMES.
EVALUATION AND TREATMENT ???
HEEL PRICK TEST / BLOOD TEST
SWEAT TEST
EVALUATION AND TREATMENT, WHAT ARE HEAL TEST AND BLOOD TEST LOOKING FOR?
IMMUNOREACTIVE TRYPSINOGEN
EVALUATION AND TREATMENT, WHAT IS A SWEAT TEST LOOKING FOR?
REVEAL SWEAR CHLORIDE CONCENTRATION IN EXCESS OF 60mmol/L
EVALUATION AND TREATMENT, WHAT WILL HEEL PRICK, BLOOD AND SWEAT TEST LEAD TO?
GENETIC TESTING.
EVALUATION AND TREATMENT, WHAT DOES THIS GENETIC TESTING INVOLVE?
GENOTYPING FOR THE CFTR MUTATIONS.
