Chapter 15 Patho Flashcards
- Define genetic disorder
- Most common fatal inherited disorder in childhood
- Adult disease
- Most common fatal inherited disorder in childhood
- CF is autosomal recessive gene disorder of
mutation in a pair of genes located on Chromosome 7
- There are ? different mutations of CF in the gene that encodes CF
- 2400
- 2500
- 3400
- 2400
- CFTR define
cystic fibrosis transmembrane conductance regulator
- Genetic defect for CF involves absence of 3 pairs of codon 508, what percent of cases
- 70-75% of all CF pt tested
- 50-65% of all CF pt tested
- 70-75% of all CF pt tested
- Basis of what causes CF
- chlorine is not transported into cells, causes water to leave mucous (leaving behind thick mucous).
- cystic fibrosis transmembrane conductance regulator
- chlorine is not transported into cells, causes water to leave mucous (leaving behind thick mucous).
- anatomic alterations of the lung
- excessive production & accumulation of thick, tenacious mucus in the tracheobronchial tree
- mucous plugging, partial bronchial obstruction
- hyperinflation of alveoli
- total bronchial destruction (mucous plugging)
- altelectasis
- mucous blocks which organ causing the body to not be able to digest fats & proteins
- Pancreas
- Liver
- Heart
- Pancreas
- Blockage in the intestines (infants after birth) called?
- Meconium ileus.
- COPD.
- Empysema
- Meconium ileus.
- How CF affects fertility.
- Infertility in men, decreased fertility with women
- Infertility in women, decreased fertility with men
- Infertility in men, decreased fertility with women
- Clinical symptoms consistent with CF in at least one organ system?.
Has at least many diseases what is it?
- pulmonary system
- sinus disease
- pancreatic disease
- meconium ileus
- bilary disease
- male infertility
- Clinical evidence of CF, through test
- elevated sweat chlorine >60 mEq/L (on 2 occasions)
- Genetic testing presence of 2 disease causing mutation
- abnormal nasal potential difference
- Screening and dx
- newborn screening
- sweat test
- genetic testing
- nasal potential difference
- prenatal testing
- stool fecal fat test
- CF screening protocols will ID ?% of infants
90% at newborn
- Most common DNA protocol for screening newborn
for 32-85 of the most common CF mutations on the 2-5% of the samples with highest IRT
- A negative or normal sweat test ID
as a carrier of CF
- If both parents test positive for the CF mutation, the chances of a positive CF child is what %
25%, 50% unaffected, 25% unaffected
- When one parent is carrier and the other parent is CF parent, what are the chances of Child.
50% chance affected and 50% chance unaffected carrier
- Noncarrier parent and CF parent what is the chances of the child?
100% chance unaffected carrier
- Noncarrier parent and carrier parent what are the chances of the child?
50% chance unaffected and 50% chance unaffected
- define fecal fat test
test measures the amount of fat in the infants stool and the % of dietary fat not absorbed by the body
test measures the amount of fat in the infants stool and the % of dietary fat not absorbed by the body
- fecal fat test determines how which organs are functioning
liver, gallbladder, pancreas, intestines are functioning
normal results for fecal fat test
7 g of fat per 24 hours is normal for malabsorption, any number above 7 is associated with several disorders including CF
what are 3 clinical manifestation of CF
- atelectasis
- bronchospasm
- excessive bronchial secretions
- Vital signs for CF that show increased
respiratory rate tachypnea
heart rate pulse
blood pressure elevated
- Physical observations
use of accessory muscles of inspiration use of accessory muscles of expiration pursed-lip breathing barrel chested cyanosis digital clubbing cough, sputum production & hemoptysis
- chest assessment findings
decreased tactile & vocal fremitus hyperresonant percussion note diminished breath sounds diminished heart sounds bronchial breath sounds (over atelectasis) crackles wheezing
- When CF pt has spontaneous pnuemothorax pt has ?% of reoccurence
50% chance
- FEV1 (decreased or increased)
decreased, forced expiratory volume in 1 second
- PEFR (decreased or increased)
decreased, peak expiratory
FRC & RV (decreased or increased)
increased, air trapping
- ABG results typical when (mild to moderate)
pH increased PaCO2 decreased HCO-3 decreased PaO2 decreased SaO2/SpO2 decreased
- ABG results when (severe)
pH Normal PaCO2 increased HCO-3 increased PaO2 decreased SaO2/SpO2 decreased
- Oxygenation indices
Shunting(Qs/Qt) : increased
- abnormal lab results: hematology
increased hematocrit & hemoglobin
increased white blood count (infections)
- abnormal lab results: electrolytes
hypocholermia (chronic ventilatory failure)
- abnormal lab results: sputum
gram positive bacteria
gram negative bacteria
- radiologic findings
translucent (dark) lung fields depressed & flattened diaphragms right ventricular enlargement areas of fibrosis & atelectasis Tram - tracks (bronchiectasis) Bronchiectasis (2ndary complication) pnuemothorax (spontaneous) abscess formation (occasionally)
- common non-respiratory clinical manifestations
intestinal blockage
malnutrition & poor body development
intestinal blockage malnutrition & poor body development
- primary goals of management of CF
prevent pulmonary infections
reduce thick bronchial secretions
improve air flow
provide adequate nutrition
- Resp care protocols
O2 therapy
Bronchopulmonary hygiene therapy (CPT & VEST)
Lung expansion therapy ( IPPB, IS, PEP therapy)
aerosolized meds
- general therapies beyond resp care
antibiotics nutritional & vitamin supplements ibuprofen inhaled corticosteroids pancreatic enzymes psychosocial issues (quality of life, adherence to therapies, depression, end of life)
- lung/heart transplant numbers
1/1700 year total transplants
around 200 transplants for CF pt annually
1 year survival 90%
5 yr survival 80%
- What organisms are commonly found in the tracheobronchial tree secretions of patients with CF?
- Staphylococcus, Haemophilus influenza, Pseudomonas aeruginosa
- Streptococcus, COPD
- Staphylococcus, Haemophilus influenza, Pseudomonas aeruginosa
- When 2 carriers of CF produce children, there is a…
25% chance that the baby will be completely normal
25% chance the baby will have CF
- The cystic fibrosis gene is located on which chromosome?
7
- In CF the patient commonly demonstrates….
↓ MVV
↑ RV
↓ FEV₁/FVC ratio
- During advance stages of CF, the patient generally demonstrates….
bronchial breath sounds
diminished breath sounds
hyperresonant percussion notes
- About 80% of all CF patients demonstrate a deficiency in which vitamins?
A, D, E, K
- What agent targets the underlying cause of CF, the faulty gene G551D, and its defective CFTR protein?
Ivacafor
- Name possible mucolytic agents
~ Dornase Alpha Pulmozyme ~ N-acetylcysteine Mucomyst ~ DNase
- With regard to the secretion of sodium and chloride, the sweat glands of patients with CF secrete up to
4 times the normal amount
- What clinical manifestations are associated with severe CF?
~ ↑ CVP
~ ↓ breath sounds
~ ↑ pulmonary vascular resistance
- anatomic alterations
~ ↑ production/ accumulation of thick, tenacious mucus in the tracheobronchial tree ~ partial/ total bronchial obstruction mucus plugging ~ hyperinflation of alveoli ~ atelectasis
- etiology/ epidemiology
~ autosomal recessive gene disorder
mutations of chromosome 7
∆f508 defect
~most common fatal inherited disorder in childhood
- 2 carrier parents
25% unaffected
50% unaffected (asymptomatic) carrier
25% affected
- 1 carrier + 1 CF parent
50% affected
50% unaffected (asymptomatic) carrier
- 1 noncarrier + 1 CF parent
100% unaffected (asymptomatic) carrier
- 1 noncarrier + 1 carrier parent
50% unaffected
50% unaffected (asymptomatic) carrier
- criteria for diagnosis
~ ↑ sweat chloride >60 meq/L on 2 occasions ~ abnormal nasal potential difference ~ genetic testing
- Newborn screening
~ trypsin-like
~ serum trypsin
- stool fecal fat test
measures amount of fat in infants stool
percentage of dietary fat not absorbed by the
body
- organs affected by CF
~ lungs
~ pancreas
- meconium ileus
obstruction of small intestine of newborn (by meconium)
- vital signs
↑ respiratory rate
↑ heart rate
↑ blood pressure
- physical examination
~ use of accessory muscles inspiration/ exporation ~ pursed lip breathing ~ barrel chest ~ cyanosis ~ digital clubbing ~ cough, sputum, hemoptysis
- chest assessment
~ ↓ tactile/ vocal fremitus ~ hyperresonance ~ diminished breath sounds ~ diminished heart sounds ~bronchial breath sounds over atelectasis ~ crackles/ wheezing ~ spontaneous pneumothorax
- hematology
↑ HCT
↑ Hb
- electrolytes
hypochloremia
↑ serum bicarbonate
- CXR
~ translucent lung fields ~ depressed/ flattened diaphragm ~ right ventricular enlargement ~ areas of atelectasis/ fibrosis ~ tram-tracks ~ bronchiectasis ~ spontaneous pneumonthorax ~ abscess formation
- nonrespiratory complications
~ meconium ileus ~ meconium ileus equivalent ~ malnutrition/ poor body development ↓ vitamins A, D, E, K infertility (males) nasal polyps/ sinusitis
- general management
Primary Goals ~ prevent pulmonary infections ~ ↓ thick bronchial secretions ~ improve airflow ~ provide adequate nutrition Instruct patient and family about disease and its effects
- respiratory treatment
~ O₂ therapy ~ bronchopulmonary hygiene ~ lung expansion therapy ~ aerosolized medications bronchodilators mucolytics antibiotics ~ mechanical ventilation
- other medication/ procedures
~ antibiotics ~ Ibuprofen ~ ICS ~ systemic glucocorticoids ~ lung or heart-lung transplant ~ vest ~ pancreatic enzymes
