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46 Cards in this Set
- Front
- Back
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CF is the most commonly inherited______________ |
Autosomal recessive disorder |
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CF affects 3 body systems: |
Respiratory Digestive Reproductive |
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CF is caused by: |
Single-site mutation to the CFTR gene |
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CFTR |
Cystic Fibrosis Transmembrane Conductance Regulator |
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Most common CF mutation |
delta F508 |
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Function of CFTR |
Codes for Cl channels of exocrine glands |
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Cl moves into cells _________ with ____, and is _________ pumped out |
Passively Na Actively |
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In CF, net water movement into cell causes: |
Thick, tenacious secretions |
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Consequences of CF |
Respiratory system GI system Pancreatic Insufficiency Reproductive function |
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Diagnostic Tests for CF |
Sweat test (sweat Cl>60mEq/L) Genetic test (blood test for F508/other mutations) |
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Criteria for CF Diagnosis |
-Positive result on sweat test -Presence of chronic lung disease -Failure to thrive -Malabsorption -Family history |
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Respiratory complication in CF |
Abnormal mucus secretion clogs airways--> disrupts normal clearance mechanism Thick secretions trap bacteria-->infections |
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Respiratory infections in CF |
Colonization with Pseudomonas aeruginosa/ Staphylococcus aureus |
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Recurrent infection in CF causes: |
Chronic inflammation-->Progressive lung damage (obstructive pulmonary disease) |
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Advanced Respiratory Disease in CF |
Air trapping (barrel chest) Clubbing fingers Blue and breathless Destruction of lung tissue-->respiratory failure |
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Management of CF |
Chest physiotherapy 1-4 times/day Antibiotics (aerosolized, oral, IV) Bronchodilators |
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Criteria for IV respiratory antibiotics |
Minimum 14 days in hospital or approval for home IV |
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Pancreatic Insufficiency in CF |
Thick mucus prevents release of pancreatic enzymes into GI for digestion of food |
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Pathophysiology of PI |
Blockage of ducts-->chronic inflammatory reaction-->pancreatic fibrosis, fatty replacement, cyst formation, duct ectasia |
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Lipomatosis |
Fatty replacement |
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Effect of mucus obstruction on liver |
Liver disease-->cirrhosis |
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Intestinal obstruction in PI |
Meconium ileus Distal intestinal obstruction syndrome (DIOS) |
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Meconium Ileus |
Occurs during first few days of life Thick and sticky meconium Obstructs ileum |
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Treatment of Meconium Ileus |
Enemas Surgery |
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Treatment of DIOS |
Surgery |
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Diagnostic Tests for PI |
72 Hour Fat Balance Fecal Elastase Test |
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72 Hour Fat Balance |
Fat malabsorption (up to 50% in stool/d) |
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Problems with 72 Hour Fat Balance |
Accuracy of food record and stool collection Older children refuse to use nun's cap Need to reverse diapers for infants |
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Fecal Elastase Test |
Specimen container for spot amount of stool (20mg), <100um fecal elastase/g stool = pancreatic insufficiency |
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Prothrombin Time |
Time it takes blood to clot |
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International Normalized Ratio |
Pts PT/Mean Normal PT |
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APTT |
Activated Partial Thromboplastin Time |
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CF Effect on Reproductive System |
Male infertility (lack of functional sperm) Thickened cervical mucus in females (pregnancy still possible) |
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Energy Imbalance in CF |
Increased energy need with decreased food intake |
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Increased energy needs in CF due to |
Increased GI losses (PI, bile salt metabolism, abnormal intestinal mucus) Increased urinary losses (DM) Increased energy expenditure (pulmonary disease) |
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Reduced energy intake in CF due to |
Insufficient intake (anorexia, depression, esophagitis) Basic defect (increased energy metabolism) |
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Assessment of Nutritional Status in CF |
Growth measurements Energy requirements Diet assessment Biochemical indices |
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Energy requirement tests in CF |
BMR Activity Pulmonary status Degree of malabsorption |
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Nutritional Management of CF |
-Pancreatic Enzyme Replacement Therapy -Provide adequate E and PRO -Supplemental fat-soluble vitamins -Increased Na to compensate for extra loss -Oral/EN/PN supplementation |
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PERT |
Pancreatic Enzyme Replacement Therapy Minimizes E loss in CF |
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E and PRO requirements in CF |
~30% more than usual E requirement Up to ~50% more if severe lung damage Up to double the DRI for PRO |
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Nutritional Risk in CF (Infancy) |
Growth rates high Needs high Feeding problems Delay to diagnosis |
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Nutritional Risk in CF (Adolescence) |
Needs increased over middle childhood Disease progression Adolescent behavioural issues Compliance with enzyme use |
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Diet in CF: <1yr of age |
-BF (54% kcal fat) or standard infant formula with added iron 0.68kcal/ml (37-49%fat) -Pancreatic enzymes if PI -Concentrate pm for more calories -Na supplement 2-4mmol Na/kg BW |
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Diet in CF: >1yr of age |
-Increased calories, fat easiest source -Whole milk, milkshakes -Commercial supplements (1.0-2.0kcal/mL) |
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Nutritional Failure in CF due to |
-Reduced appetite -Avoiding increased fat foods for school lunches/snacks -Non-compliance pancreatic enzymes -Not taking enzymes appropriately -Enzymes expired or not stored correctly |
