Disease burden of Crigler–Najjar syndrome: Systematic review and future perspectives

Crigler–Najjar syndrome (CNS) results from biallelic mutations of UGT1A1 causing partial or total loss of uridine 5′‐diphosphate glucuronyltransferase activity leading to unconjugated hyperbilirubinemia and its attendant risk for irreversible neurological injury (kernicterus). CNS is exceedingly rare and has been only partially characterized through relatively small studies, each comprising between two and 57 patients.

• Publication year

  2020

• Venue

  Journal of Gastroenterology and Hepatology

• Publication date

  2020-04-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1111/jgh.14853PMID 31495946
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• AAV8 Gene Therapy Rescues the Newborn Phenotype of a Mouse Model of Crigler–Najjar

  2018cited by this paper
• Human hepatocyte transplantation for liver disease: current status and future perspectives

  2018cited by this paper
• Determining the Minimally Effective Dose of a Clinical Candidate AAV Vector in a Mouse Model of Crigler-Najjar Syndrome

  2018cited by this paper
• Preclinical Development of an AAV8-hUGT1A1 Vector for the Treatment of Crigler-Najjar Syndrome

  2018cited by this paper
• Advances in understanding disease mechanisms and potential treatments for Crigler–Najjar syndrome

  2018cited by this paper
• Hepatic Parenchymal Injury in Crigler-Najjar Type I

  2017cited by this paper
• Intense blue light therapy during the night-time does not suppress the rhythmic melatonin biosynthesis in a young boy

  2017cited by this paper
• Acute cholangitis in an old patient with Crigler-Najjar syndrome type II - a case report

  2016cited by this paper
• Inherited disorders of bilirubin clearance

  2016cited by this paper
• Gene Therapy for Hemophilia

  2016cited by this paper
• Pediatric liver transplantation experience

  2016cited by this paper
• Phototherapy in the newborn: what's new?

  2015cited by this paper
• Reduction of hyperbilirubinemia with hypericum extract (St. John's Wort) in a patient with Crigler‐Najjar syndrome type II

  2015cited by this paper
• Disorders of bilirubin binding to albumin and bilirubin-induced neurologic dysfunction.

  2015cited by this paper
• Correction: Adeno-Associated Viral Vector Serotype 5 Poorly Transduces Liver in Rat Models

  2014cited by this paper
• Hepatocyte Transplantation.

  2014cited by this paper
• Liver transplantation for pediatric metabolic disease.

  2014cited by this paper
• The Newcastle-Ottawa Scale (NOS) for Assessing the Quality of Nonrandomised Studies in Meta-Analyses

  2014cited by this paper
• Life-Long Correction of Hyperbilirubinemia with a Neonatal Liver-Specific AAV-Mediated Gene Transfer in a Lethal Mouse Model of Crigler–Najjar Syndrome

  2014cited by this paper
• Long-term safety and efficacy of factor IX gene therapy in hemophilia B.

  2014cited by this paper
• New insights in bilirubin metabolism and their clinical implications.

  2013cited by this paper
• Adeno-Associated Viral Vector Serotype 5 Poorly Transduces Liver in Rat Models

  2013cited by this paper
• Long‐term hazards of neonatal blue‐light phototherapy

  2013cited by this paper
• Evolution of indications and results of liver transplantation in Europe. A report from the European Liver Transplant Registry (ELTR).

  2012cited by this paper
• Rare and Ultra Rare Diseases

  2012cited by this paper
• The Cochrane Collaboration's tool for assessing risk of bias in randomised trials

  2011cited by this paper
• Adenovirus-associated virus vector-mediated gene transfer in hemophilia B.

  2011cited by this paper
• Preferred reporting items of systematic review and meta-analyses: the PRISMA statement

  2011cited by this paper
• The Cochrane Collaboration’s tool for assessing risk of bias in randomised trials

  2011cited by this paper
• Light-emitting diode phototherapy for unconjugated hyperbilirubinaemia in neonates.

  2011cited by this paper
• Cost of illness and economic evaluation in rare diseases.

  2010cited by this paper
• Liver transplantation in children with metabolic diseases: The studies of pediatric liver transplantation experience

  2010cited by this paper
• Living related liver transplantation in Crigler-Najjar syndrome type 1.

  2009cited by this paper
• Hepatocyte Transplantation

  2009cited by this paper
• Preferred reporting items for systematic reviews and meta-analyses: the PRISMA Statement

  2009cited by this paper
• Pediatric Liver Transplantation for Metabolic Liver Disease: Experience at King’s College Hospital

  2009cited by this paper
• Crigler–Najjar syndrome: therapeutic options and consequences of mutations in the UGT1A1 complex

  2008cited by this paper
• Bmc Medical Research Methodology Open Access Development of Amstar: a Measurement Tool to Assess the Methodological Quality of Systematic Reviews

  2007cited by this paper
• Management of hyperbilirubinemia and prevention of kernicterus in 20 patients with Crigler-Najjar disease

  2006cited by this paper
• Oral treatment of unconjugated hyperbilirubinemia

  2006cited by this paper
• Gene therapy for hemophilia A.

  2006cited by this paper
• Adeno-associated virus vector serotypes mediate sustained correction of bilirubin UDP glucuronosyltransferase deficiency in rats.

  2006cited by this paper
• Living Donor Liver Transplantation for Noncirrhotic Inheritable Metabolic Liver Diseases: Impact of the Use of Heterozygous Donors

  2005cited by this paper
• Living Donor Liver Transplantation for Pediatric Patients with Inheritable Metabolic Disorders

  2005cited by this paper
• Definition of the Clinical Spectrum of Kernicterus and Bilirubin-Induced Neurologic Dysfunction (BIND)

  2005cited by this paper
• Hepatocyte transplantation

  2004cited by this paper
• Treatment of Crigler-Najjar type 1 disease: relevance of early liver transplantation.

  2003cited by this paper
• Inherited disorders of bilirubin metabolism.

  2003cited by this paper
• Liver Transplantation in Children with Metabolic Disorders in the United States

  2003cited by this paper
• Living‐related liver transplantation for Crigler–Najjar syndrome in Saudi Arabia

  2002cited by this paper
• Management of Crigler-Najjar Syndrome type I.

  2001cited by this paper
• Auxiliary partial orthotopic liver transplantation for Crigler-Najjar syndrome type I.

  1999cited by this paper
• Diagnosis and management of Crigler-Najjar syndrome

  1999cited by this paper
• Crigler-Najjar syndrome in Saudi Arabia.

  1998cited by this paper
• Treatment of the Crigler-Najjar syndrome type I with hepatocyte transplantation.

  1998cited by this paper
• UvA-DARE ( Digital Academic Repository ) Oral calcium phosphate : a new therapy for Crigler-Najjar disease ?

  1997cited by this paper
• Lack of deafness in Crigler-Najjar syndrome type 1: a patient survey.

  1997cited by this paper
• A neurophysiological study in children and adolescents with Crigler-Najjar syndrome type I.

  1997cited by this paper
• Orthotopic liver transplantation for Crigler-Najjar type I syndrome.

  1997cited by this paper
• Current therapy for Crigler‐Najjar syndrome type 1: Report of a world registry

  1996cited by this paper
• Crigler-Najjar syndrome types I and II. Clinical experience--King's College Hospital 1972-1978. Phenobarbitone, phototherapy and liver transplantation.

  1987cited by this paper
• Urinary Excretion of an Isomer of Bilirubin during Phototherapy

  1985cited by this paper
• A clinical pathologic reappraisal of kernicterus.

  1982cited by this paper
• Congenital familial nonhemolytic jaundice with kernicterus.

  1952cited by this paper
• Living donor liver

  year unknowncited by this paper

• Between Crigler-Najjar Syndrome Type II and Gilbert Syndrome: Expanding the Spectrum of Uridine Diphosphate Glucuronosyltransferase 1A1 (UGT1A1)-Related Hyperbilirubinemia

  2026cites this paper
• The deLIVERed promises of gene therapy: past, present and future of liver-directed gene therapy.

  2025cites this paper
• The Silent Echoes of Heredity: A Rare Case Report of Crigler–Najjar Syndrome Type II in Syria

  2025cites this paper
• Interpreting abnormal liver blood test results

  2025cites this paper
• NANOSPRESSO: toward personalized, locally produced nucleic acid nanomedicines

  2025cites this paper
• Two-step AAV8 gene delivery in a child with Crigler-Najjar syndrome type I

  2025cites this paper
• Issues, Challenges and Opportunities for Economic Evaluations of Orphan Drugs in Rare Diseases: An Umbrella Review

  2024influential citation
• Circulating lncRNAs HOTTIP and HOTAIR as Potential Biomarkers in Crigler-Najjar Syndrome: A Preliminary Report from Shiraz Liver Transplant Research Center

  2024cites this paper
• Therapeutic Options for Crigler–Najjar Syndrome: A Scoping Review

  2024cites this paper
• Liver Transplantation in Crigler-Najjar Syndrome

  2024cites this paper
• Analysis of UGT1A1 genotype-phenotype correlation in Chinese patients with Gilbert and Crigler-Najjar II syndrome.

  2024cites this paper
• Kernicterus caused by a rare genetic variant of Crigler-Najjar Syndrome (c.826G>C)

  2024cites this paper
• Temporal alteration of serum bilirubin levels and its renoprotective effects in diabetic kidney disease: exploring the hormonal mechanisms

  2024cites this paper
• Approaches to therapy of Crigler–Najjar syndrome type 1 in children

  2024cites this paper
• Health-related quality of life and cognitive function in children with Crigler–Najjar syndrome type 1

  2024cites this paper
• Clinical implications of persistent joint pain after gout flare.

  2024cites this paper
• mRNA therapies: Pioneering a new era in rare genetic disease treatment.

  2024cites this paper
• Case report: Crigler-Najjar syndrome type 1 in Croatia—more than a one in a million: a case series

  2023cites this paper
• Gilbert’s syndrome as a model for studying the effects of bilirubin

  2023cites this paper
• The added value of brain MR spectroscopy in children with Crigler-Najjar syndrome Type-I: Correlation with demographic, neurodevelopmental, and laboratory findings.

  2023cites this paper
• Application of Clavien–Dindo classfication-grade in evaluating overall efficacy of laparoscopic pancreaticoduodenectomy

  2023cites this paper
• Liver Transplantation in a Child With Crigler-Najjar Syndrome Type I: A Case Report With Review of the Literature

  2023cites this paper
• Development and Validation of Pretreatment Serum Total Bilirubin as a Biomarker to Predict the Clinical Outcomes in Primary Central Nervous System Lymphoma: A Multicenter Cohort Study

  2023cites this paper
• Current status and future directions of liver transplantation for metabolic liver disease in children

  2023cites this paper
• A rare case of Crigler–Najjar syndrome type 2: A case report and literature review

  2023cites this paper
• Neonatal Hyperbilirubinemia.

  2022cites this paper
• Disease burden and management of Crigler‐Najjar syndrome: Report of a world registry

  2022cites this paper
• Bilirubin-Induced Neurological Damage: Current and Emerging iPSC-Derived Brain Organoid Models

  2022influential citation
• Diffusion Tensor Imaging of Auditory Pathway in Patients With Crigler-Najjar Syndrome Type I: Correlation With Auditory Brainstem Response

  2021influential citation
• HEREDITARY UNCONJUGATED HYPERBILIRUBINEMIA (COMBINATION OF CRIGLER-NAJJAR SYNDROME TYPE II AND GILBERT'S SYNDROME)

  2021cites this paper
• НАСЛЕДСТВЕННАЯ НЕКОНЪЮГИРОВАННАЯ ГИПЕРБИЛИРУБИНЕМИЯ (СОЧЕТАНИЕ СИНДРОМА КРИГЛЕРА-НАЙЯРА II ТИПА И СИНДРОМА ЖИЛЬБЕРА)

  2021cites this paper
• Liver transplantation for pediatric inherited metabolic liver diseases

  2021cites this paper
• Disorders of bilirubin and lipid metabolism

  2021cites this paper
• Pediatric metabolic liver diseases: Evolving role of liver transplantation

  2021cites this paper
• Rats Genetically Selected for High Aerobic Exercise Capacity Have Elevated Plasma Bilirubin by Upregulation of Hepatic Biliverdin Reductase-A (BVRA) and Suppression of UGT1A1

  2020cites this paper
• Efficacy of AAV8-hUGT1A1 with Rapamycin in neonatal, suckling, and juvenile rats to model treatment in pediatric CNs patients

  2020cites this paper
• Bilirubin as a Metabolic Hormone: The Physiological Relevance of Low Levels.

  2020cites this paper
• Expert Consensus on the Diagnosis and Management of Inherited Hyperbilirubinemia (2025)

  1988cites this paper
• University of Birmingham Issues, Challenges and Opportunities for Economic Evaluations of Orphan Drugs in Rare Diseases

  year unknowninfluential citation