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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

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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) - PowerPoint PPT Presentation

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

Morning Report: October 25, 2010

Board Review Today!

12:00Topic: Genetics

Page 2: Morning Report:  October 25, 2010 Board Review Today ! 12:00 Topic: Genetics

Diabetes InsipidusPolydipsia, polyuria, dilute urine,Hypernatremia, dehydration

Page 3: Morning Report:  October 25, 2010 Board Review Today ! 12:00 Topic: Genetics

Diabetes InsipidusCentral or Neurogenic DI

Destruction of posterior pituitary (tumors/trauma) Deficiency of vasopressin

Nephrogenic DIRenal tubular resistance to vasopressinIntrinsic receptor defectMedications

Page 4: Morning Report:  October 25, 2010 Board Review Today ! 12:00 Topic: Genetics

Compulsive Water DrinkerPhysiologic inhibition of vasopressin

secretionFemale PredominanceUsually presents in adulthood

May be seen in adolescence>10% of patients with schizophrenia

Page 5: Morning Report:  October 25, 2010 Board Review Today ! 12:00 Topic: Genetics
Page 6: Morning Report:  October 25, 2010 Board Review Today ! 12:00 Topic: Genetics

Clinical PresentationInfants:

Poor feeding, FTTIrritability, seizures

hypernatremia, dehydrationVomiting after feedsDiapers “dripping wet”Less severe in breast fed babies (solute load)Inquire about family history

Page 7: Morning Report:  October 25, 2010 Board Review Today ! 12:00 Topic: Genetics

Clinical PresentationOlder Children:

Polyuria, polydipsia with normal glucose Hypernatremia

Neurologic deficits or precocious puberty Neurogenic DI

Consider obstructive uropathyMedicationsSystemic disorders

Page 8: Morning Report:  October 25, 2010 Board Review Today ! 12:00 Topic: Genetics
Page 9: Morning Report:  October 25, 2010 Board Review Today ! 12:00 Topic: Genetics
Page 10: Morning Report:  October 25, 2010 Board Review Today ! 12:00 Topic: Genetics

Laboratory TestsCompulsive water drinker

Low serum osmolality coupled with hypo-osmolar urine

Vasopressin deficiency/insensitivityHigh serum osmolality

In setting of normal serum glucose and ureacoupled with hypo-osmolar urine

Page 11: Morning Report:  October 25, 2010 Board Review Today ! 12:00 Topic: Genetics

Water Deprivation TestFollow specific protocol

close monitoringDiagnostic criteria of DI (short deprivation)

Plasma elevation >10mOsm/kg over baselineUrine SpG remains <1.010

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

DDAVP ChallengeIf urine osm increased > 450mOsm/kgEstablishes central DI

If urine osm remains < 200 mOsm/kgLikely nephrogenic DI

If urine osm incresed > 750 mOsm/kgLikely compulsive water drinker

Page 13: Morning Report:  October 25, 2010 Board Review Today ! 12:00 Topic: Genetics
Page 14: Morning Report:  October 25, 2010 Board Review Today ! 12:00 Topic: Genetics
Page 15: Morning Report:  October 25, 2010 Board Review Today ! 12:00 Topic: Genetics

DDAVP Intranasally

Page 16: Morning Report:  October 25, 2010 Board Review Today ! 12:00 Topic: Genetics

MRIVisualizes:

Anterior and posterior pituitaryPituitary stalk

Possible pathologySuprasellar massPituitary cystHypoplasiaEctopic pituitary

Page 17: Morning Report:  October 25, 2010 Board Review Today ! 12:00 Topic: Genetics

ManagementCentral DI

Intranasal DDAVPOral repletion of waterIf IV fluids used

No more than 3% dextrose Avoid worsening hyperosmolality Avoid glucosuria

Page 18: Morning Report:  October 25, 2010 Board Review Today ! 12:00 Topic: Genetics

ManagementNephrogenic DI

Low-Osmolar, low Na dietHuman milk in infancyThiazide diuretic

Increases Na lossNSAIDS may have benefit

Use only if other methods fail

Page 19: Morning Report:  October 25, 2010 Board Review Today ! 12:00 Topic: Genetics

PrognosisConsider genetic testing/counselingBehavioral problems

Short attention span, hyperactivity, learning delays ? Exacerbated by frequent trips to bathroom, water

source ?Nonobstructive functional hydronephrosis

May be transientCaution when pt cannot readily access water