A Common Clinical Challenge: Neonatal Jaundice Is it Physiologic or Pathologic?

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Presentation transcript:

Pediatric Cholestatic Jaundice: Differential Diagnosis of Treatable Disorders

A Common Clinical Challenge: Neonatal Jaundice Is it Physiologic or Pathologic?

Case: Full-Term Female Infant

Neonatal Jaundice

Neonatal Jaundice (cont)

Case (cont) Recurrence of Jaundice After Initial Improvement

Case (cont) Diagnosis: Prolonged Neonatal Jaundice

Prolonged Neonatal Jaundice Breast Milk-Related Jaundice

Prolonged Neonatal Jaundice: Is It Noncholestatic or Cholestatic in Origin?

Liver Disease in the Newborn

Differential Diagnosis of Cholestasis in Newborns Think Anatomic

Differential Diagnosis of Cholestasis in Newborns (cont)

Evaluating Prolonged Neonatal Jaundice Visual Assessment is Observer Dependent

NASPGHAN/ESPGHAN: Recommendations for Evaluation of the Potential for Cholestatic Liver Diseases

Evaluation of the Baby With Persistent Jaundice

Evaluation of the Baby With Persistent Jaundice (cont)

Physical Examination of the Baby With Persistent Jaundice: Head to Toe

Physical Examination of the Baby With Persistent Jaundice: Head to Toe (cont)

Evaluation of the Baby With Persistent Jaundice Additional Laboratory Tests

Evaluation of the Baby With Persistent Jaundice Additional Laboratory Tests (cont)

Differential Diagnosis: Intrahepatic Cholestasis Red Flags That Require Early Intervention

Differential Diagnosis of Treatable Disorders: Single-Gene Defects Identification and Early Intervention Can Make a Difference

Origins of Neonatal Cholestasis

Emory Cholestasis 57 Gene Panel Emory Cholestasis 57 Gene Panel* Only 1 Blood Sample Required to Identify Key Genes: Example of a Gene Panel

NASPGHAN/ESPGHAN Recommendations

NASPGHAN/ESPGHAN Recommendations (cont)

NASPGHAN/ESPGHAN Recommendations (cont)

NASPGHAN/ESPGHAN Recommendation Consider Whether a Liver Biopsy Would Be Helpful

Liver Biopsy for Biliary Atresia Does the Patient Need An Intraoperative Cholangiogram?

Biliary Atresia

Therapies Are Available for Some Cholestatic Disorders

Concluding Remarks Take-Home Messages

Abbreviations

Abbreviations (cont)