Internal Medicine

0521779407-C04 CUNY1086/Karliner 0 521 77940 7 June 14, 2007 20:37

Crigler-Najjer Syndrome Type 1 Crigler-Najjer Type 2 419

follow-up

■monitoring and maintaining appropriate bilirubin levels and hydra-

tion

complications and prognosis

■high kernicterus risk and infant death without ongoing treatment

(phototherapy) or definitive therapy with liver transplantation

Crigler-Najjer Type 2..................................

WILLIAM E. BERQUIST, MD

history & physical

■incidence: rare

■inheritance: autosomal dominant, variable penetrance

■jaundice at birth

■normal physical exam and rare incidence kernicterus

tests

Basic Tests

■plasma bilirubin: 6–45 mg/dl, all unconjugated ususally >20 mg/dl

■normal liver enzymes and hemolytic screen

Special Diagnostic

■phenobarbital therapy decreases bilirubin

■DNA mutations in encoding gene UGT1A1

■liver biopsy tissue: decreased activity of UGT1A1 enzyme

Other Diagnostic

■oral cholecystogram: normal

■liver biopsy: histology normal

differential diagnosis

■sepsis, hemolysis, breast-milk jaundice

■Crigler-Najjer syndrome type 1: unresponsive bilirubin to pheno-

barbital therapy

■Gilbert’s Syndrome: lower bilirubin and different gene probe analysis

management

■evaluate and treat any sepsis, hemolysis, or dehydration