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XIO > metabolic > Flashcards

metabolic Flashcards

1
Q

Celiac Disease - when does it appear?

A

Usually apparent at 6-2 years of age

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2
Q

Celiac Disease - Cannot tolerate

A

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

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3
Q

Four Characteristics of Celiac Disease (MAVS)

A

Steatorrhea (fatty, foul, frothy, bulky stools)
General malnutrition
Abdominal distention
Secondary vitamin deficiencies

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4
Q

celiac triggers (VSS)

A

viral infection, after surgery, emotional stress, ingestion of gluten

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5
Q

celiac crisis - Acute episodes precipitated by the triggers - what are the symptoms? (think electroytes) - acidosis or alkylosis?

A

Electrolyte imbalance
Rapid dehydration
Severe acidosis

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6
Q

celiac - Diagnostic Evaluation

(I gotta get a celiac test)

A

Measure fecal fat content
Duodenal biopsy
IgA antiendomysial antibodies
IgA antitissue transglutaminase antibodies
Improvement with removal of gluten in diet

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7
Q

Gluten found in

A

Wheat
Rye
Barley
Oat grains

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8
Q

celiac - Studies show what about breastfeeding?

A

Longer breastfeed
The later the symptoms appear

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9
Q

CF - cause

A

Inherited autosomal recessive trait
Child inherits defective gene from both parents

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10
Q

CF - patho - what about sweat?

A

Increased viscosity of mucous gland secretions
Elevation of sweat electrolytes
Increase in several organic & enzymatic constituents of saliva

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11
Q

CF patho

A

Due to thick mucous secretions
Small passages in pancreas & bronchioles
Become obstructed

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12
Q

CF - respiratory - what about the heart?

A

Reduced O2-carbon dioxide exchange causes
Hypoxia
Hypercapnia
Acidosis
Pulmonary hypertension
Cor pulmonale
Respiratory failure
Death

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13
Q

CF - Gastrointestinal tract - diabetes?

A

Risk of type I diabetes
Due to changes in pancreas & diminished blood supply over time

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14
Q

CF - Clinical manifestations : most common symptoms - pancreas, infection, sweat glands

A

Pancreatic enzyme deficiency due to duct blockage
Progressive chronic obstructive disease associated with infection
Sweat gland dysfunction resulting in increased sodium & chloride sweat concentrations

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15
Q

CF = Respiratory Tract - lung sounds? cough?

A

Wheezing
Dry non-productive cough
Chronic cough
Dyspnea

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16
Q

CF = Reproductive Tract

A

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

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17
Q

CF =Reproductive Tract - men

A

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

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18
Q

CF = Integumentary System - salt during heat?

A

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

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19
Q

CF = Diagnostic Evaluation - pancreatic enzymes?

A

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

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20
Q

CF diagnostic - lungs?

A

Patchy atelectasis & obstructive emphysema
Evidence of abnormal small airway function

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21
Q

CF - screening

A

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

22
Q

CF - Therapeutic Management: Pulmonary

A

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

23
Q

CF - treatment GI - how to take pancreatic enzymes? and how many?

A

Replacement of pancreatic enzymes (PE)
Administered with meals & snacks
1-5 caps
PE should be taken within 30 mins. of eating

24
Q

CF = Therapeutic Management:
Pancreatic Enzymes - adjust to how many stools a day?

A

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

25
Q

CF - Therapeutic Management:
 diet

A

Diet: well-balanced, high protein, high caloric
Need calories because of impaired intestinal absorption
Avoid dehydration

26
Q

CF - Therapeutic Management:
GI - what vitamins?

A

Uptake of fat-soluble vitamins is decreased
Water-miscible forms of Vitamins A,D,E,K
Multivitamins
Prevent osteoporosis
GoLYTELY (osmotic solution) (constipation)

27
Q

PKU - caused by an absence of what?

A

Genetic disease
Inherited
Autosomal – recessive trait
Cause by absence of enzyme
Needed to metabolize
Essential amino acid
Phenylalanine

28
Q

PKU - patho - what about the liver?

A

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.

29
Q

PKU patho - what about urine?

A

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

30
Q

PKU patho - what about body odor and urine?

A

Results in accumulation
Phenylalanine in bloodstream
Leading to musty body and
& urinary odor (caused by excretion of phenol acids)

31
Q

PKU patho - decrease in what neurotransmitters?

A

Accumulation of phenylalanine
Decreased levels of neurotransmitters dopamine & tryptophan
Affect normal development of brain & CNS

32
Q

PKU symptoms

A

Seizures
Mental retardation
Hyperactivity
Irritability
Vomiting
Eczema-type rash

33
Q

Decreased levels of tyrosine cause a deficiency of the pigment melanin causing most children with PKU

A

Blond hair
Blue eyes
Fair skin
Prone to eczema

34
Q

PKU - Child appears normal

A

SXS develop as level rises
IF TX not started immediately
IQ can drop 10 points within 1st month
Will continue to decline

35
Q

PKU - Clinical Manifestations - stomach? and behavior?

A

Failure to thrive
Frequent vomiting
Irritability
Hyperactivity
Unpredictable
Erratic behavior

36
Q

PKU - Older children

A

Bizarre or schizoid behavior
Fright reactions
Screaming episodes
Head banging
Arm biting
Disorientation
Failure to respond to strong stimuli
Catatonia-like positions

37
Q

PKU - Clinical Manifestations - neuro - just one

A

Many severely retarded children have seizures
80% of untreated persons with PKU have abnormal EEG regardless if seizures occur

38
Q

PKU - Diagnostic Evaluation - how long after birth to do test?

A

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

39
Q

PKU - theraputic management - how much phenylalanine?

A

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

40
Q

PKU - Special formulas: - is breastfeeding ok?

A

Special formulas: Lofenalac or Phenyl-Free-1-infant
Modified proteins - hydrolysate
Breastfeeding possible under supervision (monitor serum levels)

41
Q

PKU management

A

Low-phenylalanine diet
Begun at birth into adulthood
Frequent monitoring of blood phenylalanine & tyrosine levels
Monitor intellectual, neurologic, behavioral, & neuropsychologic

42
Q

Dietary Treatment for PKU

A

Diet for adequate growth and development
With very low phenylalanine
Low Protein

43
Q

PKU - Prognosis

A

Early recognition & treatment
Improves chances to achieve normal cognitive development
High percentage exhibit some degree of intellectual impairment

44
Q

celiac triggers (CPF)

A

prolonged fasting, pregnancy, childbirth

45
Q

CF - what about pancreas? is bicarbonate high or low?

A

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

46
Q

CF - which nervous system is affected?

A

Abnormalities in autonomic nervous system function

47
Q

CF - liver

A

Liver – bilary obstruction & fibrosis
Multilobular biliary cirrhosis
Gallbladder

48
Q

CF - Salivary glands

A

dry mouth

49
Q

CF - chest - what does it look like?

A

Patchy atelectasis
Barrel chest
Bronchitis
Rhinitis
Chronic nasal congestion

50
Q

CF - diagnostic - stool? enema?

A

72 hour - Stool fat
Enzyme analysis
Barium enema – DX meconium ileus

51
Q

CF - what about their O2 levels?

A

Cautious with O2 (chronic carbon dioxide retention) “Oxygen Toxicity”

XIO (393 decks)

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