Version 1
: Received: 14 September 2024 / Approved: 16 September 2024 / Online: 17 September 2024 (04:13:38 CEST)
How to cite:
Sambati, V.; Laudisio, S.; Motta, M.; Esposito, S. Therapeutic Options for Crigler-Najjar Syndrome: a Scoping Review. Preprints2024, 2024091267. https://doi.org/10.20944/preprints202409.1267.v1
Sambati, V.; Laudisio, S.; Motta, M.; Esposito, S. Therapeutic Options for Crigler-Najjar Syndrome: a Scoping Review. Preprints 2024, 2024091267. https://doi.org/10.20944/preprints202409.1267.v1
Sambati, V.; Laudisio, S.; Motta, M.; Esposito, S. Therapeutic Options for Crigler-Najjar Syndrome: a Scoping Review. Preprints2024, 2024091267. https://doi.org/10.20944/preprints202409.1267.v1
APA Style
Sambati, V., Laudisio, S., Motta, M., & Esposito, S. (2024). Therapeutic Options for Crigler-Najjar Syndrome: a Scoping Review. Preprints. https://doi.org/10.20944/preprints202409.1267.v1
Chicago/Turabian Style
Sambati, V., Matteo Motta and Susanna Esposito. 2024 "Therapeutic Options for Crigler-Najjar Syndrome: a Scoping Review" Preprints. https://doi.org/10.20944/preprints202409.1267.v1
Abstract
Crigler-Najjar Syndrome (CNS) is a rare genetic disorder caused by mutations in the UGT1A1 gene, leading to impaired bilirubin conjugation and severe unconjugated hyperbilirubinemia. CNS presents in two forms: CNS type 1 (CNS1), the more severe form with a complete absence of UGT1A1 activity, and CNS type 2 (CNS2), with partial enzyme activity. CNS1 requires aggressive management, including phototherapy and plasmapheresis, but liver transplantation (LT) remains the only definitive cure. The timing of LT is critical, as it must be performed before the onset of irreversible brain damage (kernicterus), making early intervention essential. However, LT poses risks such as graft rejection and lifelong immunosuppression. CNS2 is milder, with patients re-sponding well to phenobarbital and having a lower risk of kernicterus. Recent advancements in gene therapy and autologous hepatocyte transplantation offer promising alternatives to LT. Gene therapy using adeno-associated virus (AAV) vectors has shown potential in preclinical studies, though challenges remain in pediatric applications due to liver growth and pre-existing immunity. Autologous hepatocyte transplantation avoids the risks of rejection but requires further research. These emerging therapies provide hope for more effective and less invasive treatment options, aiming to improve the quality of life for CNS patients and reduce reliance on lifelong interven-tions.
Medicine and Pharmacology, Pediatrics, Perinatology and Child Health
Copyright:
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