Cystic Fibrosis Flashcards
1 in ___Canadians is a carrier of a
CF mutation
1 in 25 (to 30) Canadians is a carrier of a
CF mutation
Describe the genetics in CF
CF is autosomal recessive, most common in those with european descent.
CF is ___ recessive, most common in those with european descent.
CF gene is foundon chromosome ___ as the ___ gene. the ____ gene is the most common mutation.
CF is AUTSOMAL recessive, most common in those with european descent.
CF gene is found on chromosome 7 as the CFTR gene. the DELATF508 gene is the most common mutation.
Class types of CFTR mutation
different class affect different cell aspects
Class1: protein is no synthetized at all
Class2: protein is synthesized but does not make it to eh membrane
Class3: channel gets to the membrane but cannot activate
Class4: channel can function normally but it doesn’t last very long. acceleated turn over
Class5: normal channel but just reduced synthesis
Class6: different channels effected
types of Testing for CFTR Mutations
- Standard panel testing – top 69 most common mutations in Alberta
- Extended panel testing
• CFTR sequencing
( Challenges with interpretation )
Abnormal CFTR consequences
Defective __ transport on __ cell
membrane, and enhanced __ absorption
through epithelial ___ channels (ENaC)
and basolateral __/_ ___ pumps
Net effect: less water to ___ layer,
impaired mucociliary clearance, ____,
infection
Defective chloride transport on apical cell
membrane, and enhanced sodium absorption
through epithelial sodium channels (ENaC)
and basolateral Na/K ATPase pumps
Net effect: less water to mucociliary layer,
impaired mucociliary clearance, inflammation,
infection
outline the sweat test procedure and what results would indicate CF
sweat test is the diagnosis for CF.
- they do pilocarpine stimulation on forearm
- sweat chloride level is HGIH in people with CF >60mmol/L
- normal is <30 in infants, <40 in older
- gray zone results are problemtaic.
Explain CFTR function in the sweat gland
in sweat glands, the channel is reversed. Cl normally tries to go into the extracellular space, but sweat glands try and absorb Cl INTO the cell. in people with CF, there are deficinet Cl channels everywhere including the sweat glands, and so the CL stays in the sweat because the channel cannot bring it back into the cell.
common presentations of CF
Acute or persistent
respiratory symptoms
“asthma”
“cough” “wheeze”
“bronchitis
Nasal polyps/sinus
disease
Failure to
thrive/malnutrition
Steatorrhea/abnormal
stools– can’t absorb fat from their diet.
Formula intolerance
Colic Food intolerance
Newborn screening
Neonatal screening
less common presentations that are red flags
rectal prolapse, meconium ileus, bowel obstruction, family history, appendicitis, fat-soluble vitamin insufficiency, electrolyte imbalance.
finger issues in CF
clubbing is seen
treatment for nasal polyps
usually steroids, sometimes antibiotics
CF: lung involvement
Chronic endobronchial __
Chronic endobronchial neutrophilic
__
__ airway disease
___
Chronic endobronchial infection
Chronic endobronchial neutrophilic
inflammation
Obstructive airway disease
bronchiectasis
4 key managements of CF lung disease
- nutrition
- chest physiotherapy
- enhance mucus clearance via hypertonic saline inhalation
- antibiotic therapy during exacerbations
methods of chest physiotherapy to help with airway clearance
most common bug that cause lung infections in person with CF
most common is staph aureus. treatments are often for fram positive bugs, and do cultures.
- when you get older with CF, the less common bugs become more common too
pulmonary complications of CF
Hemoptysis
Pneumothorax
Nocturnal hypoventilation
End stage lung disease
treatment/management of end stage lung disease
- lung transplant
- non-invasice ventilatory support X
main pancreatic problems in CF
- pancreatic insufficiency
- causes malabsorption of fat and protein, as well as fat soluble vitamins
- also a loss of bicarbonate and water secretion into duodenum to assist with absorption
how do you monitor pancreatic functon in people with CF
- stoolfrequency and quality
- abdominal pain
- growth and weight gain
- fecal elastase to assess pancreatic sufficiency
- fat soluble vitamin levels ADEK
Pancreatic enzyme replacement
why is there CF related diabetes
- because there is a decline in pancreatic islet cell function with age.
- may see weight loss, decling in pulmonary function.
- must use insulin
The CF gut:
5-10% of babies with CF present with
___ ileus at birth
in children, ___ is common.
___ ___ ___ ___ (DIOS) is a condition where thick fecal material plus mucoid material adheres to the bowel wall.
5-10% of babies with CF present with
MECONIUM ileus at birth
in children, CONSTIPATION is common.
DISTAL INTESTINAL OBSTRUCTION (DIOS) is a condition where thick fecal material plus mucoid material adheres to the bowel wall.
TREATMENT FOR CONSTIPATION AND DIOS
- hydration
- osmotic laxative PO
- NG decompression
- NG gastrograffin
- surgery in extreme cases
first sign of CF liver disease
first signi s LFT elevation. May also see difficulty in absorption of fats. consider ursodeoxycholic acid to improve clearance of bile salts from ductules.
Fertility in CF
Males infertile
occlusion of __ __ (congenital absence)
Females have reduced fertility, due to
quality of __ __
severity of lung disease
_ status
Fertility in CF
Males infertile
occlusion of vas deferens (congenital absence
of the vas deferens)
Females have reduced fertility, due to
quality of cervical mucus
severity of lung disease
nutritional status
outline the CF newborn screening protocol in Alberta
you first do a blood spot and sent for metabolic disease function including CF. looking for IRT protein related to the panceras. Is often elevated in CF and in carriers.
note; complications increase with age. it’s no longer a pediatric disease now that there are better treatments
note; new meds
