Peds Metabolid disorders

  1. What is Diabetes Inspitus?
    • • An inability to concentrate urine because of a deficiency of vasopressin (ADH)
    • Frequently results from head trauma, tumors, or infections within the hypothalmus
    • Also results from cranial irradiation for tumors
    • • Many cases considered idiopathic 
  2. SnSs of diabetes insipitus?
    • • Increased urination (polyuria)
    • • Excessive thirst (polydipsia)
    • • Other: nocturia and dehydration
    • • Diagnostics: Hypernatremia and low urine specific gravity without hyperglycemia 
  3. Tx of diabetes insipitus?
    • • Maintain fluid balance
    • • Administer synthetic vasopressin (DDAVP)
    • • Overtreatment will result in fluid retention and dilutional hyponatremia 
  4. Whats the diff between diabetes insipitus and SIADH?
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  5. What is Cushing's Syndrome?
    • • Group of manifestations caused by excessive circulating free cortisol
    • • Can result from a variety of causes
    • • Clinical Manifestations: 
    • Moon facie, pendulous abdomen, poor wound healing, weight gain, excessive hair growth (hirsutism) 
  6. What is congenital adrenal hyperplasia?
    • • Group of disorders
    • • Adrenal gland is not able to produce adequate glucocorticoid
    • However produces excess androgens during process of attempting to make adequate glucocorticoid
    • Caused by a defect in the enzymatic pathway 
  7. What are SnSs of congenital adrenal hyperplasia?
    • • Ambiguous genitalia of the newborn female
    • • Salt-wasting crisis in the first few weeks of life with low serum Na+, high serum K+, hypovolemia, and hypotensive crisis
    • • May manifest with a muscular body, advanced bone age, and premature pubic hair 
  8. Tx of congenital adrenal hyperplasia?
    • • Life-long treatment with glucocorticoid therapy
    • Hydrocortisone TID
    • Mineralocorticoid (Aldosterone) replacements if “salt wasting”
    • Monitor growth and assess for signs of early puberty 
  9. What is congenital hypothyroidism?
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  10. SnSs of congenital hypothyroidism?
    • Skin mottling, large fontanel, large tongue, hypotonia, slow reflexes, distended abdomen
    • Other: lethargy, constipation, feeding problems, coldness to touch, excessive sleeping
    • Usually id’d by newborn screening
    • Thryoid scan can identify any functioning thyroid tissue
    • Requires life-long thyroid replacement (Levothyroxine) 
  11. How is aquired hypothyroidism usually aquired?
    • From Tx for cancer, ie Hashimoto's thyroiditis.
    • • Usually presents with a goiter
    • • Result of an autoimmune process
    • • Most common cause of hypothyroidism in children and adolescents 
  12. What is the pathophys of aquired autoimmune hypothyroidism
    • Circulating autoantibodies decrease thyroid gland production of T3 and T4
    • These autoantibodies bind at TSH sites on the thyroid gland, resulting in decrease of TH production
    • Cause of autoimmune reaction is unknown
    • • Diagnosis is made by noting elevated levels
    • of TSH and low T4 levels 
  13. SnSs of aquired hypothyroidism?
    • • Goiter
    • • Dry, thick skin
    • • Coarse dull hair
    • • Fatigue, cold intolerance
    • • Constipation
    • • Weight gain
    • • Decreased linear growth
    • • Edema of the face, eyes, and hands
    • • Irregular or delayed menses 
  14. Tx for aquired hypothyroidism?
    • • Oral Thyroid hormone replacement
    • • Prompt treatment needed for brain growth in infants
    • • Compliance with medication regime is crucial 
  15. What is hyperthyroidism?
    • AKA Grave's disease
    • • Most common cause of hyperthyroidism in childhood is Graves Disease
    • Autoimmune condition in which excess thyroid hormones are produced by an enlarged thyroid gland 
  16. SnSs of Grave's Disease?
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  17. Tx for Grave's Disease?
    • • Manifestations develop gradually, often over 6 to 12 months
    •  • Diagnosis based on increased levels of T3, T4 with suppressed TSH
    •  • Treatment: anti-thyroid drug therapy, radioactive iodine, or surgery 
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Peds Metabolid disorders
The child with endocrine/metabolic disorders