What are the treatment options for Crigler-Najjar syndrome?

Updated: May 21, 2019
  • Author: Hisham Nazer, MBBCh, FRCP, DTM&H; Chief Editor: BS Anand, MD  more...
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Answer

Patients with Crigler-Najjar syndrome type 2 may not require any treatment or can be managed with phenobarbital. By contrast, prompt treatment of kernicterus is required in patients with Crigler-Najjar syndrome type 1 to avoid the potentially devastating neurologic sequelae.

Emergent management of bilirubin encephalopathy involves plasma exchange transfusion, which acts by removing the bilirubin-saturated albumin and providing free protein, which draws bilirubin from the tissues.

Plasma exchange should be accompanied by long-term phototherapy, which helps in the conversion of bilirubin to more soluble isoforms that can be excreted in the urine. Oral calcium phosphate may be a useful adjuvant to phototherapy in Crigler-Najjar syndrome type 1. (It should be kept in mind, however, that phototherapy restricts the life of the child and his or her family. Phototherapy also causes insensible water loss, diarrhea, tanning of the skin, and problems in maintaining body temperature.)

Inhibitors of heme oxygenase, such as tin protoporphyrin or tin-mesoporphyrin, may be helpful in reducing bilirubin levels emergently, but the effect is short-lived.

Therapies based on gene and cell transfer techniques, although largely experimental at the present time, are likely to play an important role in the management of Crigler-Najjar syndrome in the future. [67, 68]


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