Approaches to therapy of Crigler–Najjar syndrome type 1 in children

The review is focused on exploring the etiology, pathogenesis, clinical manifestations, and primarily the contemporary treatment methods for Crigler–Najjar syndrome type 1. It considers relevant data regarding the efficacy and safety of the currently existing therapeutic strategies. Effective manage...

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Bibliographic Details
Published in:Bulletin of RSMU 2024-12 (2024(6))
Main Authors: Gautier, MS, Degtyareva, AV, Degtyarev, DN, Ushakova, LV, Filippova, EA, Albegova, MB, Bavykin, AS, Savilova, AM, Zhdanova, SI
Format: Article
Language:English
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Summary:The review is focused on exploring the etiology, pathogenesis, clinical manifestations, and primarily the contemporary treatment methods for Crigler–Najjar syndrome type 1. It considers relevant data regarding the efficacy and safety of the currently existing therapeutic strategies. Effective management of this condition relies on early diagnosis and prompt initiation of treatment, which are crucial for preventing disabling neurological complications associated with bilirubin encephalopathy in patients with Crigler–Najjar syndrome type 1. Prolonged phototherapy is the key treatment method, while liver transplantation represents a radical approach. Recent advances in gene therapy and the use of mesenchymal multipotent stromal cells present novel opportunities for developing alternative, less invasive treatment modalities aimed at improving the quality of life in such patients and reducing their dependence on long-term phototherapy, along with post-transplantation risk.
ISSN:2500-1094
2542-1204
DOI:10.24075/brsmu.2024.070