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MCN 109 Midterms > Inborn Errors of Metabolism > Flashcards

Inborn Errors of Metabolism Flashcards

1
Q

Inborn Errors of Metabolism (IEMS)

A
  • inherited diseases
  • interruption in pathways of metabolism of proteins, carbs, and/or lipids
  • most do not produce symptoms in first 24 hours of life
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2
Q

Metabolic Pathways

A

sequence of enzyme catalyzed reactiojs that lead to conversion of substance to final product

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3
Q

Why Dx is Challenging

A
  • episodic nature
  • symptoms associated with more common conditions such as infection/ sepsis
  • low incidence
  • lack of experience among pedia subspecialties
  • need for specialty training
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4
Q

Tandem Mass Spectrometry (MS/MS)

A
  • ENBS
  • only few drops of blood needed
  • molecular weight will be observed
  • confirmatory test for diagnosis to be truly positive
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5
Q

Congenital Hypothyroidism (CH)

A
  • inborn
  • does not make enough thyroid hormone
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6
Q

Thyroid Gland

A

butterfly shaped organ at the back of throat that produces hormones

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7
Q

Primary CH Cause

A
  • complete or partial absence of functional thyroid tissue
  • abnormal location of thyroid gland
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8
Q

Secondary/ Tertiary CH Cause

A

defect in part of brain responsible for stimulating TH production

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9
Q

Thyroid Hormones

A

TRIIODOTHYRONINE (T3)
THYROXINE (T4): crucial for normal g&d of body and brain

  • thermoregulation
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10
Q

Permanent CH Cause

A
  • defective development of thyroid gland
  • enzymatic defect in thyroxine (t4) synthesis
  • pituitary dysfunction (RARE)
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11
Q

Transient CH Cause

A
  • maternal intake of anti-thyroid medication
  • excess iodine
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12
Q

CH Clinical Manifestation

A
  • hypotonia
  • prolonged jaundice (bilirubin in bloodstream)
  • inactive defecation
  • umbilical hernia
  • pallor, coldness, hypothermia
  • edema
  • rough facial features
  • enlarged tongue
  • rough, dry skin
  • open posterior fontanelle
  • delayed overall development
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13
Q

CH Late Manifestations

A
  • mental retardation
  • growth retardation
  • delayed skeletal maturation
  • delayed dental development and tooth eruption
  • delayed puberty (female: no menstruation)
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14
Q

CH Diagnostic Evaluation

A
  • NB screening
  • initial filter-paper blood-spot T4 measurement
  • TSH measurement (if low T4 level

ADDITIONAL:
- T3, T4 resin uptake (decreased)
- free T4 (decreased)
- thyroid hormone globulin
- thyroid scan (check anatomical structure)

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15
Q

CH Treatment: Thyroid Hormone Replacement

A
  • start before child turns 2
  • oral adm of sodium levothyroxine (L-Thyroxine, Synthroid, Levothroid) indefinitely
  • tablets must be crushed then added to food or small amt of formula/ breast milk
  • do not give soy-based formula and iron supplements (reduce amount of absorption)
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16
Q

CH Management

A
  • monitor T3, T4, TSH levels to maintain optimum levels

TSH: <4 IU/ mL

17
Q

CH Nursing Management

A
  • early identification
  • ensure screening is performed
  • explain that disorder necessitates lifelong treatment
  • stress importance of compliance with drug regimen (to achieve normal g&d)
  • teach client drug overdose and signs and symptoms
18
Q

CH Drug Overdose Signs and Symptoms

A
  1. rapid pulse (heart compensates, BP increases)
  2. dyspnea (fluid overload in lungs or compensates)
  3. irritability (alteration in brain perfusion)
  4. insomnia (hyper)
  5. fever (increased thermoregulation)
  6. sweating
  7. weight loss (increased metabolic process)
19
Q

Adrenal Glands

A

located above kidney

20
Q

Hyperplasia

A

abnormal increase in cells leading to enlargement

21
Q

CAH Hormones: Mineralocorticoids

A
  1. aldosterone
  2. corticosterone
22
Q

CAH Hormones: Glucocorticoids

A
  1. cortisol
  2. cortisone
23
Q

CAH Hormones: Androgens

A
  1. estrogen
  2. testosterone
24
Q

CAH Hormones: Catecholamines

A
  1. epinephrine
  2. norepinephrine
25
Q

CAH Hormones: Peptides

A
  1. somatostatin
  2. substance p
26
Q

Adrenal Medulla

A
  • secretes norepinephrine and epinephrine
  • fight or flight response / vigorous activities
  • adrenaline rush
27
Q

Adrenal Cortex: Glucocorticoids (Cortisol)

A
  • stress hormone: response when undergoing stress
  • needed for glucose and protein metabolism
  • protective mechanism to prevent body from illness and surgery by increasing gluconeogenesis or decreasing use of glucose by tissues making them available for energy
  • decrease inflammatory response by decreasing eosinophils and lymphocytes (increased lymphocytes = infection)

MAIN: maintenance of normal blood sugar

28
Q

Adrenal Cortex: Mineralocorticoid (Aldosterone)

A

MAIN: maintenance of normal serum sodium

29
Q

Adrenal Cortex: Androgens (Testosterone)

A

MAIN: male sexual differentiation

30
Q

Regulation of Cortisol Secretion

A
  • increase protein breakdown
  • increase blood glucose
31
Q

Regulation of Aldosterone Secretion:

A
  • released when BP is low
  • needed for regulation of salt
32
Q

Regulation of Aldosterone Secretion: Kidney

A
  • will not release urine
  • retain salt
  • salt in urine pull water to put back in bloodstream
  • increase circulating blood volume
  • increase BP
  • high sodium diet increases BP
33
Q

Regulation of Aldosterone Secretion: Renin

A
  • from kidney
  1. angiotensinogen
  2. angiotensin I
  3. angiotensin II (blood vessels constrict)
  • there must be angiotensin-converting enzyme
34
Q

Cramps

A
  • release of sodium
  • increase in potassium (muscle contractility)
35
Q

21-OH-Enzyme

A
  • present in normal adrenal glands for cortisol. aldosterone and androgen release
  • absent in CAH: decreased aldosterone and cortisol, increased androgen (general changes in puberty)
36
Q

Congenital Adrenal Hyperplasia

A
  • 21-OH is missing or working incorrectly
  • decreased production of cortisol
  • severe salt loss
  • dehydration
  • abnormally high levels of male sex hormones in both boys and girls
  • autosomal recessive
37
Q

CAH Clinical Manifestations

A
  • salt-losing (salt washing)
  • low cortisol = low aldosterone (no salt/ fluid retention)

IMMEDIATELY AFTER BIRTH:
- vomiting
- diarrhea
- anorexia
- weight loss
- extreme dehydration

UNTREATED:
- shock and death as early as 48-72 hours
- hypervolemic shock, severe dehydration, extreme weight loss = failure to thrive

38
Q

CAH Late Manifestations

A

PRECOCIOUS PUBERTY:
- early sexual maturity and bone maturation
- accelerated growth during childhood
- short adult stature
- pubic hair growth, oily skin, body, odor, dark skin color

39
Q

CAH Diagnostic Evaluation

A
  • congenital abnormalities (difficulty in assigning sex 17-OHP levels, increased serum 17-ketosteroid levels)

MCN 109 Midterms (12 decks)

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