A full-term newborn presents with severe jaundice within 12 hours of life. Vital signs show HR 160/min, RR 48/min, temperature 37.2°C. Total bilirubin is 28 mg/dL (predominantly unconjugated); direct bilirubin is 0.8 mg/dL. Peripheral blood smear shows no evidence of hemolysis. The infant is lethargic with high-pitched crying and mild hypertonia. Mother reports no medications during pregnancy. Which inherited metabolic defect most likely explains these findings?
- A)Defective multidrug resistance associated protein 2 canalicular transporter
- B)Deficiency of biliverdin reductase
- C)Deficiency of heme oxygenase
- D)Partial deficiency of bilirubin UDP glucuronosyltransferase
- E)Absent bilirubin UDP glucuronosyltransferaseGABARITO
Explicação
Crigler Najjar syndrome type I is caused by complete absence of bilirubin UDP glucuronosyltransferase. The resulting severe unconjugated hyperbilirubinemia in neonates can cause kernicterus with lethargy and neurologic injury. The very high bilirubin level and... Ver explicação completa e trilha adaptativa →