metabolic Flashcards
Celiac Disease - when does it appear?
Usually apparent at 6-2 years of age
Celiac Disease - Cannot tolerate
Cannot tolerate a protein found in wheat, barley, rye, & oats
Inability to digest glutenin and gliadin
Accumulation of amino acid glutamine
Toxic to mucosal cells in intestine
Four Characteristics of Celiac Disease (MAVS)
Steatorrhea (fatty, foul, frothy, bulky stools)
General malnutrition
Abdominal distention
Secondary vitamin deficiencies
celiac triggers (VSS)
viral infection, after surgery, emotional stress, ingestion of gluten
celiac crisis - Acute episodes precipitated by the triggers - what are the symptoms? (think electroytes) - acidosis or alkylosis?
Electrolyte imbalance
Rapid dehydration
Severe acidosis
celiac - Diagnostic Evaluation
(I gotta get a celiac test)
Measure fecal fat content
Duodenal biopsy
IgA antiendomysial antibodies
IgA antitissue transglutaminase antibodies
Improvement with removal of gluten in diet
Gluten found in
Wheat
Rye
Barley
Oat grains
celiac - Studies show what about breastfeeding?
Longer breastfeed
The later the symptoms appear
CF - cause
Inherited autosomal recessive trait
Child inherits defective gene from both parents
CF - patho - what about sweat?
Increased viscosity of mucous gland secretions
Elevation of sweat electrolytes
Increase in several organic & enzymatic constituents of saliva
CF patho
Due to thick mucous secretions
Small passages in pancreas & bronchioles
Become obstructed
CF - respiratory - what about the heart?
Reduced O2-carbon dioxide exchange causes
Hypoxia
Hypercapnia
Acidosis
Pulmonary hypertension
Cor pulmonale
Respiratory failure
Death
CF - Gastrointestinal tract - diabetes?
Risk of type I diabetes
Due to changes in pancreas & diminished blood supply over time
CF - Clinical manifestations : most common symptoms - pancreas, infection, sweat glands
Pancreatic enzyme deficiency due to duct blockage
Progressive chronic obstructive disease associated with infection
Sweat gland dysfunction resulting in increased sodium & chloride sweat concentrations
CF = Respiratory Tract - lung sounds? cough?
Wheezing
Dry non-productive cough
Chronic cough
Dyspnea
CF = Reproductive Tract
Delayed puberty in females
Fertility inhibited due to highly viscous cervical secretions - which act as a plug
Blocking sperm entry
Increased incidence premature labor & delivery
Low birth weight
CF =Reproductive Tract - men
Males are sterile (95%)
Blockage of vas deferens with abnormal secretions
OR by failure of nl development of wolffian duct structures (Vas deferens, epididymis, & seminal vesicles)
That results in decreased sperm production
CF = Integumentary System - salt during heat?
Abnormal high sodium and chloride
“salty” kiss
Chloride channel defeat prevents reabsorption of sodium & chloride
Risk for salt loss, dehydration, hypochloremic and hyponatremic alkalosis during hyperthermic conditions
Massive losses through sweat.
Heat, fever
Infants
CF = Diagnostic Evaluation - pancreatic enzymes?
General activity
Physical findings
Nutritional status
Chest x-ray
Fails to thrive
Frequent respiratory infections
Sweat chloride test
History of the disease in family
Absence of pancreatic enzymes
Increase in electrolyte concentration of sweat
Chronic pulmonary involvement
CF diagnostic - lungs?
Patchy atelectasis & obstructive emphysema
Evidence of abnormal small airway function
CF - screening
Newborn screening since 1979
Standard method: detection of abnormal chloride secretion in sweat
Mutation of gene known to cause CF
Infants-immunorecative trypsinogen analysis (IRT) - followed by -
DNA - major gene defect – CFTR mutations
CF - Therapeutic Management: Pulmonary
Bronchodilators
Nebulized txs
Flutter mucus clearance device
Facilitates removal of mucous
ThAIRapy vest –high frequency chest wall oscillation
Helps loosen secretions
Forced expiration/huffing with glottis
Lung transplant
CF - treatment GI - how to take pancreatic enzymes? and how many?
Replacement of pancreatic enzymes (PE)
Administered with meals & snacks
1-5 caps
PE should be taken within 30 mins. of eating
CF = Therapeutic Management: Pancreatic Enzymes - adjust to how many stools a day?
Capsules can be swallowed whole or sprinkled on a small amount of at beginning of meal
PE adjusted to achieve normal growth & decrease the number of stools to two or three/day
CF - Therapeutic Management: diet
Diet: well-balanced, high protein, high caloric
Need calories because of impaired intestinal absorption
Avoid dehydration
CF - Therapeutic Management: GI - what vitamins?
Uptake of fat-soluble vitamins is decreased
Water-miscible forms of Vitamins A,D,E,K
Multivitamins
Prevent osteoporosis
GoLYTELY (osmotic solution) (constipation)
PKU - caused by an absence of what?
Genetic disease
Inherited
Autosomal – recessive trait
Cause by absence of enzyme
Needed to metabolize
Essential amino acid
Phenylalanine
PKU - patho - what about the liver?
Phenylketonuria. An inherited metabolic defect in protein metabolism. In PKU, the liver is unable to convert phenylalanine to tyrosine, resulting in a buildup of phenylalanine in the blood, which eventually passes into the brain, causing mental retardation and other neurological problems.
PKU patho - what about urine?
Hepatic enzyme phenylalanine hydroxylase, which controls the conversion of phenylalanine to tyrosine is absent
Results in accumulation of phenylalanine in blood stream and urinary excretion of abnormal amounts of its metabolites, the phenyl acids
PKU patho - what about body odor and urine?
Results in accumulation
Phenylalanine in bloodstream
Leading to musty body and
& urinary odor (caused by excretion of phenol acids)
PKU patho - decrease in what neurotransmitters?
Accumulation of phenylalanine
Decreased levels of neurotransmitters dopamine & tryptophan
Affect normal development of brain & CNS
PKU symptoms
Seizures
Mental retardation
Hyperactivity
Irritability
Vomiting
Eczema-type rash
Decreased levels of tyrosine cause a deficiency of the pigment melanin causing most children with PKU
Blond hair
Blue eyes
Fair skin
Prone to eczema
PKU - Child appears normal
SXS develop as level rises
IF TX not started immediately
IQ can drop 10 points within 1st month
Will continue to decline
PKU - Clinical Manifestations - stomach? and behavior?
Failure to thrive
Frequent vomiting
Irritability
Hyperactivity
Unpredictable
Erratic behavior
PKU - Older children
Bizarre or schizoid behavior
Fright reactions
Screaming episodes
Head banging
Arm biting
Disorientation
Failure to respond to strong stimuli
Catatonia-like positions
PKU - Clinical Manifestations - neuro - just one
Many severely retarded children have seizures
80% of untreated persons with PKU have abnormal EEG regardless if seizures occur
PKU - Diagnostic Evaluation - how long after birth to do test?
Collect initial specimen
Close to discharge
Most reliable after ingestion of protein
24 hours of normal feedings (breastmilk/formula)
No sooner than 48 hours after birth
If positive – do second test
PKU - theraputic management - how much phenylalanine?
Restriction of dietary protein
Phenylaline cannot be totally eliminated -
BECAUSE is a essential amino acid for tissue growth Meet child’s nutritional need for optimum growth
Maintain phenylalanine levels within a safe range
2 and 6 mg/dl
PKU - Special formulas: - is breastfeeding ok?
Special formulas: Lofenalac or Phenyl-Free-1-infant
Modified proteins - hydrolysate
Breastfeeding possible under supervision (monitor serum levels)
PKU management
Low-phenylalanine diet
Begun at birth into adulthood
Frequent monitoring of blood phenylalanine & tyrosine levels
Monitor intellectual, neurologic, behavioral, & neuropsychologic
Dietary Treatment for PKU
Diet for adequate growth and development
With very low phenylalanine
Low Protein
PKU - Prognosis
Early recognition & treatment
Improves chances to achieve normal cognitive development
High percentage exhibit some degree of intellectual impairment
celiac triggers (CPF)
prolonged fasting, pregnancy, childbirth
CF - what about pancreas? is bicarbonate high or low?
decrease pancreatic secretion of bicarbonate and chloride
in sodium and chloride in salvia and sweat
Basis for sweat chloride test
Sodium and chloride 5 Xs greater than the controls
CF - which nervous system is affected?
Abnormalities in autonomic nervous system function
CF - liver
Liver – bilary obstruction & fibrosis
Multilobular biliary cirrhosis
Gallbladder
CF - Salivary glands
dry mouth
CF - chest - what does it look like?
Patchy atelectasis
Barrel chest
Bronchitis
Rhinitis
Chronic nasal congestion
CF - diagnostic - stool? enema?
72 hour - Stool fat
Enzyme analysis
Barium enema – DX meconium ileus
CF - what about their O2 levels?
Cautious with O2 (chronic carbon dioxide retention) “Oxygen Toxicity”
