PNEUMONIA AND CF Flashcards
cystic fibrosis
FATAL DISORDER CHARACTERIZED BY EXCESSIVE PRODUCTION AND ACCUMULATION OF THE THICK MUCUS IN THE TRACHEOBROCHIAL TREE
CFTR
CYSTIC FIBROSIS TRANSMEMEBRANE CONDUCTANCE REGULATOR
A GENE THAT, WHEN MUTATED, LEADS TO CF
BROCNHIAL OBSTRUCTION
A CONDITION WHERE BRONCHIAL AIRWAYS ARE BLOCKED WHICH CAN BE CAUSED BY MUCUS PLUGGING
ATELECTASIS
PARTIAL OR COMPLETE COLLAPSE OF THE LUNG OFTEN DUE TO BLOCKAGE OF THE AIR PASSAGES
MUCUS PLUGGING
ACCUMULATION OF THICK MUCUS IN THE AIRWAYS THAT OBSTRUCT AIRFLOW
SWEAT TEST
A DIAGNOSTIC TEST FOR CF THAT MEAUSRES THE AMOUNT OF SODIUM AND CHLORIDE IN SWEAT
ELEVATED SWEAT CHLORIDE
SWEAT CHLORIDE LEVELS GREATER THAN 60 MEQ/L ON TWO OCCSAIONS INIDCATE A DX OF CF
GENETIC COUNSELING
A PROCESS TO INFORM AND SUPPORT INDIVIDUALS REGARDING GENETIC ASPECTS OF CF INCLUDING RISKS AND INHERITANCE PATTERNS
PFT
TESTS THAT MEASURE LUNG FUNCTION AND CAPACITY OFTEN INDICATING THE SEVERITY OF CF
SYMPTOMS OF CF
Chronic cough, wheezing, sputum production, frequent respiratory infections, and failure to thrive.
Hematologic outcomes in CF
Increased hematocrit and hemoglobin levels, often in response to chronic hypoxia.
Nasal potential difference (NPD)
A measurement that assesses the transport of sodium and chloride across epithelial cell linings, indicative of CFTR function.
Pre-natal testing for CF
Screening for CF mutations in pregnant women to assess the risk of having a child with CF.
anatomic alterations of the lungs -cf
EXCESSIVE RODUCTION AND ACCULULATIONOF THICK TENACIOUS MUCUS IN THE TTRACHEA-BRONCHIAL TREE
PARTIAL BRONCHIAL OBSTRUCTION (MUCUS PLUGGING)
HYPERINFLATION OF ALVEOLI
TOTAL BRONCHIAL OBSTRUCTION (MUCUS PLUGGING)
ATELECTASIS
ETIOLOGY AND EPIDEMIOLOGY OF CF
AL GENE DISORDER CAUSED BY MUTATIONS IN APAIR OF GENES LOCATED ON CHROMOSOME 7
OVER 1700 DIFF MUTATIONS IN THE GENE THAT ENCODES FOR THE CF TRANSMEMBRANE CONDUCTANCE REGULATOR, CFTR.
THE ABNORMAL EXPRESSIONOF THE CFTR RESULTS IN
RESULTS IN THICK VICIOUS ACCULUMALTION IN THE LUNGS
MUCUS BLOCKS THE PASSAGEWAYS OF THE PANCREAS WHICH PREVENTS ENZYMEABNORMLA TRANSPORT OF SODIUM AND CHLORIDE IONS ACROSS MANY TYPES OF EPIHERLIAL SURFACES
S FROM THE PANCREAS FROM REACHING THE INTESTINE
6 CLASSES OF CFTR MUTATIONS
DIVIDED INTO 3 BROAD CATEGORIES:
AFFECING THE QUALITY OF THE CFTR PROTIEN
AFFECTING FUNCTION PF THE CFTR PROTEIN
AS A GATING DEFECT (CLASSII) WHERE THE CHANNEL DOES NOT OPEN
A CONDUCTANCE DEFECT (CLASS IV) WHERE THE ION FLOW IS IMPAIRED
HOW CF GENE IS INHERITED
A RECESSIVE GENE DISORDR
THE CHILD MUST INHERIT 2 COPIES OF THE DEFECTIVE CG GENE TO HAVE DISESE
IF BOTH PARENTS CARRY THE GENE, THE POSSIBILITY OF HEIR CHILDREN HAVING FOLLOW THE MENDELIAN inherited pattern of 1 in 4.
SCREENING AND DX OF CF
BASED ON THE CLINCAL MAIFESTATIONS ASSOCIATED WITH CF
FAMILY HX OF CF
LAB FINDINGS
2 CRITERIA MUST BE MET TO DX FOR CF
1) Clinical presentation consistent with CF symptoms
. 2) Laboratory evidence of CFTR dysfunction or the presence of two CFTR mutations.
clinical eveidence of CF CFTR DYSFUNCTION
ELEVATED SWEAT CHLORIDE GREATER THAN 60 MEQ/L (ON 2 OCCASIONS)
MOLECULAR DX - GENETIC TESTING
ABNRMAL NASAL POTENTIAL DIFFERENCE
NEBORN SCREENING OF CF
A test performed on newborns to detect cystic fibrosis early, typically through the measurement of immunoreactive trypsinogen (IRT) levels.
HOW LONG HAS CF SCREENING IN NEWBORNS BEEN PRRACTICED IN ALL 50 STATES
2011
MOST INFANTS WITH CF HAVE AN ELEVATED
BLOOD LEVEL OF IMMUNOREACTIVE TRYPSINOGEN (IRT)