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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| http://dx.doi.org/10.15386/mpr-2234 | DOI Listing |
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Repeated dosing of AAV-mediated liver gene therapy in juvenile rat and mouse models of Crigler-Najjar syndrome type I.
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International Centre for Genetic Engineering and Biotechnology (ICGEB), Padriciano 99, 34149 Trieste, Italy.
Crigler-Najjar syndrome is an ultra-rare monogenic recessive liver disease caused by gene mutations. Complete UGT1A1 deficiency results in severe unconjugated hyperbilirubinemia in newborns that, if not treated, may lead to brain damage and death. Treatment is based on intensive phototherapy, but its efficacy decreases with age, rendering liver transplantation the only curative option.
View Article and Find Full Text PDFTherapeutic Options for Crigler-Najjar Syndrome: A Scoping Review.
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- Crigler-Najjar Syndrome (CNS) is a rare genetic disorder that leads to severe jaundice due to impaired processing of bilirubin, with two forms: CNS type 1 (more severe) and CNS type 2 (milder).
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Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing, 100050, China. Electronic address:
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