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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Iuliu Hatieganu University of Medicine and Pharmacy
2021
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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 |
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. |
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