CF Flashcards
Most common lethal, genetic disease in the Caucasian population
CF
what type of disease is CF
Autosomal recessive genetic disease
what does CF mainly involve?
exocrine glands
CF is an autosomal recessive disease. Which of the following statements best explains what this means?
Both mom and dad are carriers of the gene
what is the protein that mutation is in?
Cystic fibrosis transmembrane regulator (CFTR) protein
what does the Cystic fibrosis transmembrane regulator (CFTR) protein do normally?
Chloride channel in the epithelia of most of the lumens of the body
Transport chloride with accompanying sodium and water
Significant contributor to sodium and water balance
when it is defected what does Cystic fibrosis transmembrane regulator (CFTR) protein cause?
Defective electron transport
Decreased chloride secretion and increased sodium absorption
Increase in viscosity of secretions
what organ systems are involved with CF? 6
Gastrointestinal tract Pulmonary system Hepatic system Reproductive system Bone and joint system Sweat glands
how does CF present? 7
Failure to thrive Recurrent pneumonia Meconium ileus Nasal polyps Uncontrolled asthma Chronic sinusitis Salty taste to skin
what is the criteria for dx of CF? 2
-One or more characteristic signs/symptoms, history of CF in sibling, or a positive newborn screening test AND
-Evidence of CFTR abnormality
Elevated sweat chloride test X 2
Known CFTR mutations
what does NB screen detect?
Measures immunoreactive cationic trypsinogen (pancreatic enzyme precursor)
what is a positive sweat test?
- Sample of sweat is collected and concentration of chloride is determined
- Positive test is > 60 mmol/L in children and adults
what are GI deficiencies? 5
-Deficient secretion of digestive enzymes Maldigestion of ingested nutrients -Fat-soluble vitamin deficiency -Insulin deficiency -Intestinal obstruction Meconium ileus Distal intestinal obstruction syndrome (aka meconium ileus equivalent) -Reflux
how do GI deficiencies present? 3
-Steatorrhea
Stools are foul smelling, bulky, greasy, abnormally high number/day
-Malnutrition
Below age-related norms for both weight and height
-Enzyme deficiency
Due to mucous plugging and damage to the pancrease
Amylase, protease and lipase are not available to small intestine
how does pancreatic insuff present?
-Pancreatic insufficiency
Symptoms: steatorrhea, frequent loose stools, flatulence, cramping, bloating, voracious appetite
how do you treat enzyme deficiency
Pancreatic enzyme replacement
Creon®, Zenpep®, Pancreaze®
Contain lipase, protease, amylase
when do you take enzyme replacements?
with each meal or snack
what are ADRs of pancreatic replacements?
Nausea, abdominal cramps, constipation, diarrhea, greasy stools, flatulence
Reports of fibrosing colonopathy reported at high doses
what are clinical issues with pancreatic enzyme replacement?
Devp before FDA mandated proof of efficacy and safety: Inadequate enteric coating and poor acid resistance: denaturing of enzymes
what diet should CF follow for GI stuff? 3
-High calorie diet 120-150% of RDA Often require nutritional supplements Oral or via G-tube -Fat soluble vitamin replacement A, D, E, K -May require extra salt
for Diabes in CF –> increases with___ and what are features. how do you treat
-Increases with increasing age Onset during adolescence to adulthood -Shares features of DM type I and II -Pharmacotherapy Insulin
How does DIOS(distal intestinal obstruction syndrome) present?
Vomiting, abdominal distention, pain
how do you treat DIOS?
-Electrolyte lavage solutions
Endpoint is passage of stool, symptom resolution
why do CF pts have GERD?
May be due to recurrent/chronic cough, hyperinflation
