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Management of Crigler-Najjar syndrome

Crigler-Najjar syndrome is a rare autosomal recessive inherited non-hemolytic unconjugated hyperbilirubinemia caused by UDP-glucuronosyltransferase deficiency. There are two forms of this disorder. Type 1 disease is associated with severe jaundice and neurologic impairment due to bilirubin encephalo...

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Detalles Bibliográficos
Autores principales: Tcaciuc, Eugen, Podurean, Mariana, Tcaciuc, Angela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Iuliu Hatieganu University of Medicine and Pharmacy 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8411811/
https://www.ncbi.nlm.nih.gov/pubmed/34527915
http://dx.doi.org/10.15386/mpr-2234
Descripción
Sumario:Crigler-Najjar syndrome is a rare autosomal recessive inherited non-hemolytic unconjugated hyperbilirubinemia caused by UDP-glucuronosyltransferase deficiency. There are two forms of this disorder. Type 1 disease is associated with severe jaundice and neurologic impairment due to bilirubin encephalopathy that can result in permanent neurologic sequelae. Type 2 disease is associated with a lower serum bilirubin concentration and affected patients survive into adulthood without neurologic impairment. Currently, liver transplantation is the only available therapeutic method for these patients. Developing new curative approaches is a clinical need.