Metabolic and Endocrine Disorders (Peds)

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ariabarr1
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144563
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Metabolic and Endocrine Disorders (Peds)
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2012-03-29 03:34:18
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Metabolic Endocrine Disorders
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Metabolic and Endocrine Disorders (Peds)
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  1. Newborn Screening
    • one of the best screening test presently available for picking up many disorders, especially metabolic, endocrine, and genetic
    • screening test NOT a dx test
    • uses blood drop from newborns to pick up, in CA, approx 75 disorders (PKU, galactosemia, thyroid disorders, sickle cell, amino acid disorders, cystic fibrosis, fatty acid oxidation disorders
    • 1-750 come out positive
    • want the newborn to have eat at least 12 hours worth; and do test before 6 days old
  2. Phenylketonuria (PKU)
    • autosomal recessive
    • body unable to break down the essential amino acid phenylalanine into tyrosine
    • leads to high levels of phenylalanine which disrupts the cellular processes of myelination and protein synthesis
    • disrupted protein synthesis - nephrotic syndrome - liver - produces cholesterol
    • tested w/i 48 hrs after birth: must have taken formula or breastfed
  3. Complications of PKU
    • seizures
    • mental retardation
    • liver damage
  4. Tx of PKU
    diet low in phenylalanine: avoid meats/dairy; special formula (lofenalac/minafen)
  5. Galactosemia
    • autosomal recessive
    • body unable to change galactose to glucose (requires 3 enzymes)
    • unable to eat milke or cheese products for life
  6. Complications of Galactosemia
    • liver disease
    • mental retardation
    • seizures
    • possibly death
  7. Hypothyroidism
    • may be congenital (autosomal recessive)
    • 1 in 4000 births
    • common in females
    • asians/latinos
    • rare in AA
    • treated with meds for life
    • Down's at risk
  8. Causes of Hypothyroidism
    • lack of hormone
    • feedback breakdown with the central nervous system
    • hypoplasia or aplasia of gland
  9. Infant Presentation of Hypothyroidism
    • cretinoid features- flat face
    • hypotonia- floppy
    • bradycardia
    • cool extremities
    • difficulty feeding
  10. Child Presentation of Hypothyroidism
    • same as infant
    • hair loss
    • decreased appetite but weight gain
    • goiter
  11. Diabetes Insipidus
    • lack of antidiuretic hormone (ADH) or vasopressin (made in the hypothalamus, stored in the pituitary)
    • POLYURIA- excessive voiding
    • POLYDIPSIA- thirst
  12. Causes of DI
    • familial
    • idiopathic (unknown)
    • trauma
    • tumors
    • infection
  13. Dx of DI
    • Na serum levels high
    • urine specific gravity low

    kids only need to lose 5% of BW to result in dehydration

    shock - low B/P, inc HR, ALOC
  14. Care/Tx of DI
    • restrict fluids and watch specific gravity
    • vasopressin

    DO NOT want to restrict fluids, b/c then it restricts calories for children
  15. Syndrome of Inappropriate Antidiuretic Hormone (SIADH)
    • hypersecretion or release of vasopressin/ADH
    • results in reabsorption of filtered water by the kidneys into the central circulation
    • kidneys and adrenal gland regulate fluids as well as pituitary
  16. Causes of SIADH
    • infection
    • tumors
    • CNS disease
    • trauma
    • medications
  17. Dx of SIADH
    • Na serum levels low
    • Urine specific gravity/osmolarity high
    • Nausea/malaise usually prior to seizures
    • Fluid restriction
  18. Temporary SIADH or SI: swelling in head/head surgery
  19. Growth Hormone Deficiency (Hypopitutiarism)
    • Pituitary gland not producing hormone for growth
    • decreased linear growth
    • growth of all body tissues effected (muscle mass, thin hair, poor skin quality)
    • liver ineffective in metabolizing fat (excessive subcutaneous fat and hypoglycemia
    • Children normal size and weight at birth- changes in growth noted after one year (<3% - below the 3rd percentile on the growth chart)
    • Treatment depends on causes- Synthetic Growth Hormone Replacement
  20. Diabetes Mellitus (Type 1 Insulin Dependent)
    • autoimmune disease + environmental factors
    • beta cells from pancrease depleted
    • Ages 5-18
    • occurs when pancrease no longer makes insulin
  21. S/S of DM 1
    • polyuria
    • polydipsia
    • ketones in urine (breaking down fat; metabolic acidosis)
    • electrolyte imbalance
    • ketoacidosis on initial presentation (30-40%)
    • constant hunger
    • mood changes
    • fatigue
    • weight loss
    • nausea
    • vomiting
  22. Hyperglycemia
    • spills sugar in urine (changes fluid balance between intracellular/extracellular)
    • large amounts of potassium and phosphate lost (electrolyte depletion and dehydration)
    • no glucose to use so to provide energy, body breaks down proteina and fats, which releases ketones (metabolic acidosis)
  23. Diabetes Mellitus (Type 2 Non-Insulin Dependent) (NIDDM)
    • body becomes resistant and/or impaired glucose secretion
    • alteration occurs in the insulin receptors
  24. S/S of DM 2
    • polyuria
    • polydipsia
    • acanthosis
    • dry itchy skin
    • blurred vision
    • weight loss
    • nausea
    • vomiting
    • keotacidosis on initial presentation (5-25%)
  25. Risk Factors for DM 2
    • family hx
    • puberty
    • intrauterine exposure to DM (mother with gestational diabetes/DM)
    • lack of exercise
    • female
    • ethnicity- latinos/amer. indian
  26. Target Glucose Level for Non DM
    6-120 mg/dl
  27. Target Glucose Level for DM
    70-150 mg/dl
  28. Hemoglobin A1C
    • glycosylate hemoglobin
    • hemoglobin life cycle (1-3 months)
    • normally RBC carry trace of glucose
    • gives a better long term picture of glucose control
  29. Tx of DM 1
    • insulin
    • NO food should be avoided, only covered with more insulin

    1 unit of insulin = 15g of carbs
  30. Tx of DM 2
    • sometimes insulin
    • sometimes oral meds (metformin)
    • diet
    • exercise
  31. Mild S/S of Hypoglycemia
    • HA
    • shakiness/tremors
    • increased HR
    • paleness
    • clammy skin
    • sweating
    • dizziness
    • dilated pupils
  32. Moderate to SEVERE S/S of Hypoglycemia
    • yawning
    • irritability or other behavior changes
    • sudden crying
    • extreme tiredness
    • confusion
    • restlessness
    • dazed appearance
    • unconsciousness or seizure
  33. Tx of Hypoglycemia
    • Below 70 mg/dl
    • frequently cause of anxiety in children
    • NEEDS TO OCCUR RIGHT AWAY!!!
    • Give 15 gms of sugar
    • 1/2 cup of juice/soda
    • 3-4 glucose tabs
    • 4-5 lifesavers
    • 1 Tbsp honey/sugar
    • 15 gms of glucose gel
    • 1 small tube of frosting gel
  34. Tx of Hypoglycemia (Glucagon)
    • GIVE ONLY WHEN
    • unabl to drink a sugar source
    • not able to swallow
    • fighting too much to drink
    • has a seizure/convulsion

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