Crigler-Najjar Syndrome

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Disease overview

Complete (Type I) or partial (Type II) deficiency in UGT1A1 leading to build up of unconjugated bilirubin.

Common symptoms

Type I: Persistent neonatal jaundicerisk of kernicterus (bilirubin encephalopathy) within first monthcausing lethargyhypotonia with episodes of spasticityconvulsionsand risk of lasting brain damage. Type II: milderjaundice during concurrent illnessesand rarely kernicterus.

WHEN TO SUSPECT

  • Recommendation 1

    Clinically

  • Recommendation 2

    neonatal jaundice with high unconjugated bilirubin levels without hemolysis. Confirm via genetic testing for mutations in the UGT1A1 gene.

HOW TO TEST

  • Recommendation 1

    Clinically

  • Recommendation 2

    neonatal jaundice with high unconjugated bilirubin levels without hemolysis. Confirm via genetic testing for mutations in the UGT1A1 gene.

TREATMENT

  • Recommendation 1

    Phototherapy, plasmapheresis. Type II may show improved UGT1A1 activity with phenobarbital. Liver transplant is a definitive treatment and is often necessary if a patient stops responding to phototherapy (common as skin thickens with age)

  • Recommendation 2

    some believe transplant should be performed preventatively at an earlier age. Isolated hepatocyte transplant may be a "bridge" while waiting for whole-organ treatment.

PRIMARY CARE

  • Recommendation 1

    Phototherapy must be provided indefinitely unless liver transplant provided

  • Recommendation 2

    compliance with aggressive phototherapy can be difficult. Patients at increased risk for gallstones, liver fibrosis. Kernicterus is life-threatening, requires immediate phototherapy and transfer to ICU. Thresholds for bilirubin levels by gestational age here. Monitor total and direct serum bilirubin at least every 2 hours

  • Recommendation 3

    monitor for anemia. Obtain blood type as exchange transfusion may be necessary to restore normal bilirubin levels. Additional considerations here. There is ongoing uncertainty about when to offer liver transplant

  • Recommendation 4

    discuss patient preferences early [more]. Patients and families may get support from the American Liver Foundation or Parents of Infants and Children with Kernicterus

FURTHER SUPPORT

  • Recommendation 1

    Pediatric hepatology, gastroenterology, and genetic counseling is recommended. There are no centers dedicated to treating Crigler-Najjar Syndrome. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.

CLINICAL TRIALS

  • Recommendation 1

    Two trials are recruiting in Europe. Gene therapy with AAV has recently completed Phase 1, 2 studies.

Sources

No data available

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