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Morning Report: October 25, 2010 Board Review Today ! 12:00 Topic: Genetics

Morning Report: October 25, 2010 Board Review Today ! 12:00 Topic: Genetics. Diabetes Insipidus. Polydipsia , polyuria , dilute urine, Hypernatremia , dehydration. Diabetes Insipidus. Central or Neurogenic DI Destruction of posterior pituitary (tumors/trauma)

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Morning Report: October 25, 2010 Board Review Today ! 12:00 Topic: Genetics

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  1. Morning Report: October 25, 2010 Board Review Today! 12:00 Topic: Genetics

  2. Diabetes Insipidus Polydipsia, polyuria, dilute urine, Hypernatremia, dehydration

  3. Diabetes Insipidus • Central or Neurogenic DI • Destruction of posterior pituitary (tumors/trauma) • Deficiency of vasopressin • Nephrogenic DI • Renal tubular resistance to vasopressin • Intrinsic receptor defect • Medications

  4. Compulsive Water Drinker • Physiologic inhibition of vasopressin secretion • Female Predominance • Usually presents in adulthood • May be seen in adolescence • >10% of patients with schizophrenia

  5. Clinical Presentation • Infants: • Poor feeding, FTT • Irritability, seizures • hypernatremia, dehydration • Vomiting after feeds • Diapers “dripping wet” • Less severe in breast fed babies (solute load) • Inquire about family history

  6. Clinical Presentation • Older Children: • Polyuria, polydipsiawith normal glucose • Hypernatremia • Neurologic deficits or precocious puberty • Neurogenic DI • Consider obstructive uropathy • Medications • Systemic disorders

  7. Laboratory Tests • Compulsive water drinker • Low serum osmolality • coupled with hypo-osmolar urine • Vasopressin deficiency/insensitivity • High serum osmolality • In setting of normal serum glucose and urea • coupled with hypo-osmolar urine

  8. Water Deprivation Test • Follow specific protocol • close monitoring • Diagnostic criteria of DI (short deprivation) • Plasma elevation >10mOsm/kg over baseline • Urine SpG remains <1.010

  9. DDAVP Challenge • If urine osm increased > 450mOsm/kg • Establishes central DI • If urine osm remains < 200 mOsm/kg • Likely nephrogenic DI • If urine osmincresed > 750 mOsm/kg • Likely compulsive water drinker

  10. DDAVP Intranasally

  11. MRI • Visualizes: • Anterior and posterior pituitary • Pituitary stalk • Possible pathology • Suprasellar mass • Pituitary cyst • Hypoplasia • Ectopic pituitary

  12. Management • Central DI • Intranasal DDAVP • Oral repletion of water • If IV fluids used • No more than 3% dextrose • Avoid worsening hyperosmolality • Avoid glucosuria

  13. Management • Nephrogenic DI • Low-Osmolar, low Na diet • Human milk in infancy • Thiazide diuretic • Increases Na loss • NSAIDS may have benefit • Use only if other methods fail

  14. Prognosis • Consider genetic testing/counseling • Behavioral problems • Short attention span, hyperactivity, learning delays • ? Exacerbated by frequent trips to bathroom, water source ? • Nonobstructive functional hydronephrosis • May be transient • Caution when pt cannot readily access water

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