A síndrome de Crigler-Najjar (SNC) é um distúrbio hereditário do metabolismo da bilirrubina caracterizado por hiperbilirrubinemia não conjugada devido a um déficit hepático da atividade da bilirrubina glucuronosiltransferase (GT). Dois tipos foram descritos, tipos 1 e 2 do SNC. O SNC1 é caracterizado por um déficit completo da enzima e não é afetado pela terapia de indução com fenobarbital, enquanto o déficit enzimático é parcial e responde ao fenobarbital no SNC2.
Introdução
O que você precisa saber de cara
A síndrome de Crigler-Najjar (SNC) é um distúrbio hereditário do metabolismo da bilirrubina caracterizado por hiperbilirrubinemia não conjugada devido a um déficit hepático da atividade da bilirrubina glucuronosiltransferase (GT). Dois tipos foram descritos, tipos 1 e 2 do SNC. O SNC1 é caracterizado por um déficit completo da enzima e não é afetado pela terapia de indução com fenobarbital, enquanto o déficit enzimático é parcial e responde ao fenobarbital no SNC2.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 19 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 33 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.
UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite's water solubility, thereby facilitating excretion into either the urine or bile (PubMed:12181437, PubMed:15472229, PubMed:18004206, PubMed:18004212, PubMed:18719240, PubMed:19830808, PubMed:23288867, PubMed:15231852, PubMed:21422672, PubMed:38211441). Essential for the elimination and detoxification of drugs, xenobiot
Endoplasmic reticulum membraneCytoplasm, perinuclear region
Gilbert syndrome
Occurs as a consequence of reduced bilirubin transferase activity and is often detected in young adults with vague non-specific complaints.
Variantes genéticas (ClinVar)
155 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 126 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
5 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome Crigler-Najjar
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
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3 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
13 ensaios clínicos encontrados, 3 ativos.
Publicações mais relevantes
Expert Consensus on the Diagnosis and Management of Inherited Hyperbilirubinemia (2025).
To support clinicians in making informed decisions regarding the diagnosis and management of inherited hyperbilirubinemia, including Gilbert syndrome, Crigler-Najjar syndrome, Dubin-Johnson syndrome, and Rotor syndrome, the Inherited and Metabolic Liver Disease Collaboration Group of the Hepatology Branch of the Chinese Medical Association convened a panel of Chinese experts in this field. This multidisciplinary consortium developed the present expert consensus by integrating the latest advances in both clinical practice and basic research.
From Childhood Icterus to Adolescent Gallstones: Clinically Diagnosed Crigler-Najjar Syndrome Type II.
Crigler-Najjar syndrome type II (CNS-II) is an uncommon cause of persistent unconjugated hyperbilirubinemia resulting from partial deficiency of hepatic UDP-glucuronosyltransferase activity. We report the case of a 19-year-old male who presented with intermittent jaundice since childhood and recent worsening of scleral icterus. Laboratory evaluation revealed isolated unconjugated hyperbilirubinemia with normal liver enzymes. Genetic testing was unavailable; however, serum bilirubin levels declined significantly following phenobarbital therapy, confirming the diagnosis of CNS-II. Abdominal ultrasonography demonstrated gallstones, indicating chronic bilirubin supersaturation secondary to longstanding hyperbilirubinemia. The patient was managed conservatively with phenobarbital and counseling on avoiding precipitating factors such as fasting and hepatotoxic drugs. This case underscores the importance of recognizing CNS-II as a differential diagnosis in young adults with isolated unconjugated hyperbilirubinemia and cholelithiasis. It also highlights phenobarbital responsiveness as a valuable diagnostic tool in settings lacking molecular testing.
Between Crigler-Najjar Syndrome Type II and Gilbert Syndrome: Expanding the Spectrum of Uridine Diphosphate Glucuronosyltransferase 1A1 (UGT1A1)-Related Hyperbilirubinemia.
Crigler-Najjar syndrome (CNS) and Gilbert syndrome (GS) are inherited non-hemolytic unconjugated hyperbilirubinemias caused by mutations in the uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) gene, resulting in reduced or absent bilirubin conjugation. These disorders form a phenotypic spectrum, with CNS type I (CNSI) representing the most severe form, CNS type II (CNSII) an intermediate phenotype, and GS the mildest. Differentiation between CNSII and GS can be challenging due to overlapping bilirubin levels and genetic variants. We report the case of a female newborn of Nepali descent who developed jaundice within the first 24 hours of life, requiring multiple courses of phototherapy. Persistent unconjugated hyperbilirubinemia was documented beyond the neonatal period, in the absence of hemolysis or hepatic dysfunction. Genetic testing identified compound heterozygosity for UGT1A1 variants: c.1456T>G (p.Tyr486Asp), associated with CNSII when homozygous, and the promoter polymorphism UGT1A1 * 28, characteristic of GS. Over time, bilirubin concentrations progressively declined, reaching normal values by 11 months of age, and the patient remained clinically well with normal growth and neurodevelopment. This case highlights the diagnostic overlap between CNSII and GS, emphasizing the importance of correlating biochemical, genetic, and longitudinal clinical data. The coexistence of pathogenic and polymorphic UGT1A1 variants likely resulted in an intermediate phenotype, with early CNSII-like bilirubin levels followed by normalization consistent with GS. These findings broaden the understanding of the UGT1A1-related hyperbilirubinemia spectrum and reinforce the view that CNS and GS represent a clinical continuum rather than distinct entities. Comprehensive genetic testing and long-term follow-up are essential for accurate diagnosis, prognosis, and family counseling.
Development of a Physiologically Based Model of Bilirubin Metabolism in Health and Disease and Its Comparison With Real-World Data.
Bilirubin is a breakdown product of erythrocytes and plays a crucial role in elimination of heme-containing proteins. After its synthesis in the reticuloendothelial system, unconjugated bilirubin is released into plasma and taken up into the liver. In hepatocytes, bilirubin is conjugated and excreted into the gastrointestinal tract via bile, where it is further converted to urobilinoids. There are various genetic factors causing abnormal bilirubin levels in plasma, such as Gilbert syndrome, Crigler-Najjar syndrome, Dubin-Johnson syndrome, and Rotor syndrome. To better understand bilirubin metabolism and its disorders, this study develops a physiologically based computational model incorporating published literature as well as real-world clinical data from the Explorys database. The model simulates bilirubin levels in both healthy individuals and patients with disorders of bilirubin metabolism. Population simulations show that Gilbert syndrome requires a substantial reduction in UDP-glucuronosyltransferase 1A1 activity, while Crigler-Najjar syndrome requires near-complete loss of its function. In contrast, Dubin-Johnson syndrome is characterized by a significant impairment of multidrug resistance-associated protein 2 activity. To also illustrate model behavior under targeted perturbations, we simulated administration of atazanavir in healthy individuals and patients with Gilbert syndrome to investigate its effect on bilirubin levels. Relative to baseline, unconjugated bilirubin maximum concentration (Cmax) increased by 34% in healthy individuals but by 67% in Gilbert syndrome. Overall, this study provides a conceptual and mechanistically informed framework for studying bilirubin homeostasis and the functional consequences of drug administration in health and disease.
Engineering Liver-Specific Promoters: A Comprehensive Review of Design, Mechanisms, and Clinical Applications in Gene Therapy.
The liver is a primary metabolic hub and a pivotal target for gene therapy, owing to its capacity for protein secretion, role in metabolic homeostasis and immune tolerance. Liver-directed gene therapies are used to treat numerous inherited metabolic disorders and coagulation factor deficiencies including hemophilia (A and B), Crigler-Najjar syndrome, mucopolysaccharidoses, phenylketonuria, Fabry, Gaucher, Wilson and Pompe diseases. The efficacy and safety of liver-directed gene therapy rely on the use of strong tissue-specific promoters. To date, there are many different liver-specific promoters used in preclinical and clinical studies, including novel completely synthetic promoters. This review provides a comprehensive analysis of the design, engineering and application of liver-specific promoters. Furthermore, we discuss fundamental principles of gene expression regulation in the liver and the physiological and immunological characteristics that make it a suitable target organ for gene therapy delivery.
Publicações recentes
From Childhood Icterus to Adolescent Gallstones: Clinically Diagnosed Crigler-Najjar Syndrome Type II.
Expert Consensus on the Diagnosis and Management of Inherited Hyperbilirubinemia (2025).
Between Crigler-Najjar Syndrome Type II and Gilbert Syndrome: Expanding the Spectrum of Uridine Diphosphate Glucuronosyltransferase 1A1 (UGT1A1)-Related Hyperbilirubinemia.
Development of a Physiologically Based Model of Bilirubin Metabolism in Health and Disease and Its Comparison With Real-World Data.
📖 RevisãoA Case Report of Crigler-Najjar Syndrome Type I and Schizophrenia: Exploring the Intersection of Rare Metabolic and Psychiatric Disorders.
📚 EuropePMC268 artigos no totalmostrando 147
From Childhood Icterus to Adolescent Gallstones: Clinically Diagnosed Crigler-Najjar Syndrome Type II.
Clinical case reportsExpert Consensus on the Diagnosis and Management of Inherited Hyperbilirubinemia (2025).
Journal of clinical and translational hepatologyBetween Crigler-Najjar Syndrome Type II and Gilbert Syndrome: Expanding the Spectrum of Uridine Diphosphate Glucuronosyltransferase 1A1 (UGT1A1)-Related Hyperbilirubinemia.
CureusDevelopment of a Physiologically Based Model of Bilirubin Metabolism in Health and Disease and Its Comparison With Real-World Data.
CPT: pharmacometrics & systems pharmacologyA Case Report of Crigler-Najjar Syndrome Type I and Schizophrenia: Exploring the Intersection of Rare Metabolic and Psychiatric Disorders.
CureusEngineering Liver-Specific Promoters: A Comprehensive Review of Design, Mechanisms, and Clinical Applications in Gene Therapy.
CellsInspissated Bile Syndrome and Crigler-Najjar Syndrome Type II: When Two Rare Conditions Converge.
Case reports in pediatricsTransplant Without Borders: Clinical Outcomes and Challenges in Transborder Living Donor Pediatric Liver Transplantation in Jordan.
Therapeutics and clinical risk management[Expert consensus on the diagnosis and therapy of inherited hyperbilirubinemia (version 2025)].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatologyLiver Transplantation in Childhood: A 2-Year Single Center Experience.
Transplantation proceedingsTapentadol withdrawal, a newer trend in opioid overuse in Nepal: A case report.
Journal of Nepal Health Research CouncilA Rare Case of Crigler-Najjar Syndrome Type 2.
Journal of Nepal Health Research CouncilCrigler-Najjar syndrome type 2 complicating cholecystitis in a patient with UGT1A1 gene double homozygous mutations.
Frontiers of medicineHepatic Expression of Fibroblast Growth Factor 19 Significantly Correlates With Serum Bile Acids in Neonatal Cholestasis.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyRepeated dosing of AAV-mediated liver gene therapy in juvenile rat and mouse models of Crigler-Najjar syndrome type I.
Molecular therapy. Methods & clinical developmentTherapeutic Options for Crigler-Najjar Syndrome: A Scoping Review.
International journal of molecular sciencesKernicterus caused by a rare genetic variant of Crigler-Najjar Syndrome (c.826G>C).
Indian journal of pediatricsAnalysis of UGT1A1 genotype-phenotype correlation in Chinese patients with gilbert and crigler-Najjar II syndrome.
European journal of medical geneticsA Rare Presentation of Indirect Hyperbilirubinemia: Coexistence of Multiple UGT1A1 Gene Variants.
ACG case reports journalCrigler Najjar syndrome type II with severe jaundice as a new subtype(?) : A rare case report.
Clinics and research in hepatology and gastroenterologyA Case of Crigler-Najjar Syndrome Type II During Pregnancy and Its Management.
CureusType II Crigler-Najjar syndrome: a case report and literature review.
Frontiers in medicine[Correlation between the mutation spectrum of the UGT1A1 gene and clinical phenotype in patients with inherited hyperunconjugated bilirubinemia].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology[UGT1A1 gene mutation spectrum with indirect hyperbilirubinemia in children].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatologyMolecular biology of glucose-6-phosphate dehydrogenase and UDP-glucuronosyltransferase 1A1 in the development of neonatal unconjugated hyperbilirubinemia.
Pediatrics and neonatologyCrigler-Najjar syndrome: looking to the future does not make us forget the present.
Orphanet journal of rare diseasesHealth-related quality of life and cognitive function in children with Crigler-Najjar syndrome type 1.
Paediatrics and international child healthCRISPR-Cas9-mediated somatic correction of a one-base deletion in the Ugt1a gene ameliorates hyperbilirubinemia in Crigler-Najjar syndrome mice.
Molecular therapy. Methods & clinical developmentA rare case of Crigler-Najjar syndrome type 2: A case report and literature review.
Clinical case reports[Crigler-Najjar disease: A new success for gene therapy of hereditary liver diseases].
Medecine sciences : M/SCase report: Crigler-Najjar syndrome type 1 in Croatia-more than a one in a million: a case series.
Frontiers in pediatricsSynthetic augmentation of bilirubin metabolism in human pluripotent stem cell-derived liver organoids.
Stem cell reportsMild Crigler-Najjar Syndrome with Progressive Liver Disease-A Multicenter Retrospective Cohort Study.
Children (Basel, Switzerland)Free Bilirubin Induces Neuro-Inflammation in an Induced Pluripotent Stem Cell-Derived Cortical Organoid Model of Crigler-Najjar Syndrome.
CellsEffects of high bilirubin level in pregnancy in Crigler-Najjar syndrome type 2: An extremely rare but important clinical entity to recognize.
Medical journal, Armed Forces IndiaCase report: A rare case of pyruvate kinase deficiency and Crigler-Najjar syndrome type II with a novel pathogenic variant of PKLR and UGT1A1 mutation.
Frontiers in geneticsLiver Transplantation in a Child With Crigler-Najjar Syndrome Type I: A Case Report With Review of the Literature.
CureusGene Therapy in Patients with the Crigler-Najjar Syndrome.
The New England journal of medicine[A family study of the compound heterozygous mutation of the UGT1A1 gene causing Crigler-Najjar syndrome type II].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatologyLipid nanoparticle-encapsulated mRNA therapy corrects serum total bilirubin level in Crigler-Najjar syndrome mouse model.
Molecular therapy. Methods & clinical developmentPhotophysical Mechanisms of Photobiomodulation Therapy as Precision Medicine.
BiomedicinesThe added value of brain MR spectroscopy in children with Crigler-Najjar syndrome type-I: correlation with demographic, neurodevelopmental, and laboratory findings.
The British journal of radiologySARS-CoV-2 BA.2 (Omicron) variant infection in pediatric liver transplanted recipients and cohabitants during 2022 Shanghai outbreak: a prospective cohort.
Virology journalWhat's next in gene therapy for Crigler-Najjar syndrome?
Expert opinion on biological therapyABO-incompatible Pediatric Liver Transplantation With Antibody and B-cell Depletion-free Immunosuppressive Protocol in High Consanguinity Communities.
Transplantation directBilirubin metabolism and UDP-glucuronosyltransferase 1A1 variants in Asians: Pathogenic implications and therapeutic response.
The Kaohsiung journal of medical sciencesGilbert Syndrome and Genetic Findings in Children: A Tertiary-Center Experience from Turkey.
Turkish archives of pediatricsPerioperative Management of Patient with Esophageal Carcinoma and Crigler-Najjar Syndrome Type 2: A Case Report.
Frontiers in surgeryNovel combined UGT1A1 mutations in Crigler Najjar Syndrome type I.
Journal of clinical laboratory analysisGilbert or Crigler-Najjar syndrome? Neonatal severe unconjugated hyperbilirubinemia with P364L UGT1A1 homozygosity.
Italian journal of pediatricsGenetic testing of UGT1A1 in the diagnosis of Gilbert syndrome: The discovery of seven novel variants in the Chinese population.
Molecular genetics & genomic medicineReal-life Progression of the Use of a Genetic Panel in to Diagnose Neonatal Cholestasis.
JPGN reportsDisease burden and management of Crigler-Najjar syndrome: Report of a world registry.
Liver international : official journal of the International Association for the Study of the LiverPaternal uniparental disomy of chromosome 2 resulting in a concurrent presentation of Crigler-Najjar syndrome type I and long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
American journal of medical genetics. Part ADiffusion Tensor Imaging of Auditory Pathway in Patients With Crigler-Najjar Syndrome Type I: Correlation With Auditory Brainstem Response.
Journal of child neurologyThe relationship between UGT1A1 gene & various diseases and prevention strategies.
Drug metabolism reviews[Liver histologic changes in children with type 1 of Crigler-Najjar syndrome].
Arkhiv patologiiUpdate on a previously reported missense mutation: The c.1160 C>A mutation in the UGT1A1 gene result in Crigler-Najjar syndrome type 1.
Molecular genetics & genomic medicineManagement of Crigler-Najjar syndrome.
Medicine and pharmacy reportsUGT1A1-related Bilirubin Encephalopathy/Kernicterus in Adults.
Journal of clinical and translational hepatologyThe First Two Liver Transplantations in Syria.
Case reports in gastroenterologyA Rare Case Report of Crigler Najjar Syndrome Type II.
CureusOutcome of liver transplantation and prevalence of liver fibrosis in Crigler-Najjar syndrome.
Clinical transplantationEfficacy of AAV8-hUGT1A1 with Rapamycin in neonatal, suckling, and juvenile rats to model treatment in pediatric CNs patients.
Molecular therapy. Methods & clinical developmentGeneration of a Crigler-Najjar Syndrome Type I patient-derived induced pluripotent stem cell line CNS705 (HHUUKDi005-A).
Stem cell researchNovel mutations in Uridyl-diphosphate-glucuronosyl-transferase 1A1 (UGT1A1) gene in Tunisian patients with unconjugated hyperbilirubinemia.
European journal of medical geneticsCombined Spinal and TAP Blocks for Laparoscopic Cholecystectomy for a Patient with Crigler-Najjar Type 2: A Case Report.
Nigerian journal of clinical practiceEffects of Different Cold Preservation Solutions on the Functions of Cultured Isolated Human Hepatocytes.
International journal of organ transplantation medicinep.Cys223Tyr mutation causing Crigler-Najjar syndrome type II.
JGH open : an open access journal of gastroenterology and hepatologySuccessful living donor liver transplantation plus domino-auxiliary partial orthotopic liver transplantation for pediatric patients with metabolic disorders.
Pediatric surgery internationalOral findings in Crigler-Najjar syndrome type I.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryNovel UGT1A1 Gene Mutations in a Boy with Crigler-Najjar Syndrome Type II.
Journal of pediatric geneticsA Quantitative In Vitro Potency Assay for Adeno-Associated Virus Vectors Encoding for the UGT1A1 Transgene.
Molecular therapy. Methods & clinical development[Analysis of mutation site characteristics of Gilbert syndrome and Crigler--Najjar syndrome in relation to uridine diphosphate glucuronosyltransferase A1 gene].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatologyInduction of fecal cholesterol excretion is not effective for the treatment of hyperbilirubinemia in Gunn rats.
Pediatric researchDiffusion Tensor Imaging of Microstructural Changes in the Gray and White Matter in Patients With Crigler-Najjar Syndrome Type I.
Journal of computer assisted tomographyUGT1A1 Variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays.
Frontiers in geneticsCORRIGENDUM: Quantitative Systems Pharmacology Model of hUGT1A1-modRNA Encoding for the UGT1A1 Enzyme to Treat Crigler-Najjar Syndrome Type 1.
CPT: pharmacometrics & systems pharmacologyA case report of a novel 22 bp duplication within exon 1 of the UGT1A1 in a Sudanese infant with Crigler-Najjar syndrome type I.
BMC gastroenterologyCarbon monoxide breath test assessment of mild hemolysis in Gilbert's syndrome.
MedicineHuman liver stem cells express UGT1A1 and improve phenotype of immunocompromised Crigler Najjar syndrome type I mice.
Scientific reportsCrigler-Najjar Syndrome Type 1: Pathophysiology, Natural History, and Therapeutic Frontier.
Hepatology (Baltimore, Md.)Prevalence and Relevance of Pre-Existing Anti-Adeno-Associated Virus Immunity in the Context of Gene Therapy for Crigler-Najjar Syndrome.
Human gene therapyDisease burden of Crigler-Najjar syndrome: Systematic review and future perspectives.
Journal of gastroenterology and hepatologyRegenerative cell therapy for the treatment of hyperbilirubinemic Gunn rats with fresh and frozen human induced pluripotent stem cells-derived hepatic stem cells.
XenotransplantationUGT1A1 mutations and psychoses: towards understanding the relationship with unconjugated bilirubin.
CNS spectrumsA novel deletion with two pathogenic variants of UGT1A1 causing Crigler-Najjar syndrome in two unrelated Chinese.
Clinical biochemistrySpectrum of UGT1A1 variants in Pakistani children affected with inherited unconjugated hyperbilirubinemias.
Clinical biochemistryA novel UGT1A1 gene mutation causing severe unconjugated hyperbilirubinemia: a case report.
BMC pediatricsUltrasound-guided in Utero Transplantation of Placental Stem Cells into the Liver of Crigler-Najjar Syndrome Model Rat.
TransplantationIn Utero Cell Transplantation as a Tool for Fixing Liver-based Inherited Metabolic Disorders: Early Technical Evidence Supporting Potential Feasibility.
TransplantationPhase I/II Trial of Liver-derived Mesenchymal Stem Cells in Pediatric Liver-based Metabolic Disorders: A Prospective, Open Label, Multicenter, Partially Randomized, Safety Study of One Cycle of Heterologous Human Adult Liver-derived Progenitor Cells (HepaStem) in Urea Cycle Disorders and Crigler-Najjar Syndrome Patients.
TransplantationPreclinical Development of an AAV8-hUGT1A1 Vector for the Treatment of Crigler-Najjar Syndrome.
Molecular therapy. Methods & clinical development[Study on spectrum of UGT1A1 mutations in connection with inherited non-hemolytic unconjugated hyperbilirubinemia].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology[Clinical and pathological features of inherited metabolic liver disease in adults].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatologyGenes and Pathways Promoting Long-Term Liver Repopulation by Ex Vivo hYAP-ERT2 Transduced Hepatocytes and Treatment of Jaundice in Gunn Rats.
Hepatology communicationsAAV8 Gene Therapy for Crigler-Najjar Syndrome in Macaques Elicited Transgene T Cell Responses That Are Resident to the Liver.
Molecular therapy. Methods & clinical developmentUGT1A1 genotypes and unconjugated hyperbilirubinemia phenotypes in post-neonatal Chinese children: A retrospective analysis and quantitative correlation.
MedicineA Novel Pathogenic UGT1A1 Variant in a Sudanese Child with Type 1 Crigler-Najjar Syndrome.
Drug metabolism and disposition: the biological fate of chemicalsAuxiliary Partial Orthotopic Liver Transplantation for Monogenic Metabolic Liver Diseases: Single-Centre Experience.
JIMD reportsCase report: multiple UGT1A1 gene variants in a patient with Crigler-Najjar syndrome.
BMC pediatricsTransplanted Human Pluripotent Stem Cell-Derived Mesenchymal Stem Cells Support Liver Regeneration in Gunn Rats.
Stem cells and developmentCrigler-Najjar Syndrome Type II Diagnosed in a Patient with Jaundice Since Birth.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSPLiver Cirrhosis in a Patient with Crigler Najjar Syndrome.
Fetal and pediatric pathologyDetermining the Minimally Effective Dose of a Clinical Candidate AAV Vector in a Mouse Model of Crigler-Najjar Syndrome.
Molecular therapy. Methods & clinical developmentNeuro-inflammatory effects of photodegradative products of bilirubin.
Scientific reportsVariants Associated with Infantile Cholestatic Syndromes Detected in Extrahepatic Biliary Atresia by Whole Exome Studies: A 20-Case Series from Thailand.
Journal of pediatric geneticsQuantitative Systems Pharmacology Model of hUGT1A1-modRNA Encoding for the UGT1A1 Enzyme to Treat Crigler-Najjar Syndrome Type 1.
CPT: pharmacometrics & systems pharmacologyAAV8 Gene Therapy Rescues the Newborn Phenotype of a Mouse Model of Crigler-Najjar.
Human gene therapySevere Neonatal Hyperbilirubinemia in Crigler-Najjar Syndrome Model Mice Can Be Reversed With Zinc Protoporphyrin.
Hepatology communicationsDiagnostic criteria and contributors to Gilbert's syndrome.
Critical reviews in clinical laboratory sciencesCrigler-Najjar Syndrome: Current Perspectives and the Application of Clinical Genetics.
Endocrine, metabolic & immune disorders drug targetsHepatic Parenchymal Injury in Crigler-Najjar Type I.
Journal of pediatric gastroenterology and nutritionDifferences in UGT1A1 gene mutations and pathological liver changes between Chinese patients with Gilbert syndrome and Crigler-Najjar syndrome type II.
MedicineCrigler Najjar Syndrome Type 2 (CNS Type 2): An Unwonted Cause of Jaundice in Adults.
Journal of clinical and diagnostic research : JCDRRepeated AAV-mediated gene transfer by serotype switching enables long-lasting therapeutic levels of hUgt1a1 enzyme in a mouse model of Crigler-Najjar Syndrome Type I.
Gene therapyPromoterless gene targeting without nucleases rescues lethality of a Crigler-Najjar syndrome mouse model.
EMBO molecular medicineLiver Fibrosis Associated With Crigler-Najjar Syndrome in a Compound Heterozygote: A Case Report.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyInflammatory signature of cerebellar neurodegeneration during neonatal hyperbilirubinemia in Ugt1 -/- mouse model.
Journal of neuroinflammationUGT1A1 polymorphisms in cancer: impact on irinotecan treatment.
Pharmacogenomics and personalized medicineUnusual Indications for a Liver Transplant: A Single-Center Experience.
Experimental and clinical transplantation : official journal of the Middle East Society for Organ TransplantationIntense blue light therapy during the night-time does not suppress the rhythmic melatonin biosynthesis in a young boy.
Endocrine regulationsClinical UGT1A1 Genetic Analysis in Pediatric Patients: Experience of a Reference Laboratory.
Molecular diagnosis & therapyDeath from pulmonary embolism of cyanoacrylate glue following gastric varix endoscopic injection.
Forensic science, medicine, and pathology[The analysis of UGT1A1 gene mutations in hereditary unconjugated hyperbilirubinemia].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatologyGunn Rats as a Surrogate Model for Evaluation of Hepatocyte Transplantation-Based Therapies of Crigler-Najjar Syndrome Type 1.
Methods in molecular biology (Clifton, N.J.)Rigler Sign in a Child With Posttransplant Lymphoproliferative Disease: A Sign That Should Not Be Missed.
Experimental and clinical transplantation : official journal of the Middle East Society for Organ TransplantationA translationally optimized AAV-UGT1A1 vector drives safe and long-lasting correction of Crigler-Najjar syndrome.
Molecular therapy. Methods & clinical development[Genetic analysis of a child affected with Crigler-Najjar syndrome type II].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics[Phenobarbital in Crigler-Najjar syndrome type 1: A therapeutic option].
Anales de pediatria (Barcelona, Spain : 2003)Management of pregnancy in Crigler Najjar syndrome type 2.
World journal of hepatologyAcute cholangitis in an old patient with Crigler-Najjar syndrome type II - a case report.
BMC gastroenterologyTwo Different UGT1A1 Mutations causing Crigler-Najjar Syndrome types I and II in an Iranian Family.
Journal of gastrointestinal and liver diseases : JGLDReduction of hyperbilirubinemia with hypericum extract (St. John's Wort) in a patient with Crigler-Najjar syndrome type II.
British journal of clinical pharmacologyX-linked ichthyosis and Crigler-Najjar syndrome I: Coexistence in a male patient with two copy number variable regions of 2q37.1 and Xp22.3.
Molecular medicine reports[A 14-day-old boy with jaundice and apnoea].
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekkeInherited disorders of bilirubin clearance.
Pediatric researchDe Novo Donor-Specific HLA Antibody Formation in Two Patients With Crigler-Najjar Syndrome Type I Following Human Hepatocyte Transplantation With Partial Hepatectomy Preconditioning.
American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant SurgeonsCoronary Artery Disease in Patients With Disorders of Bilirubin Excretion.
American journal of therapeuticsGenotype of UGT1A1 and phenotype correlation between Crigler-Najjar syndrome type II and Gilbert syndrome.
Journal of gastroenterology and hepatologyDisruption of HNF1α binding site causes inherited severe unconjugated hyperbilirubinemia.
Journal of hepatologyAmelioration of Hyperbilirubinemia in Gunn Rats after Transplantation of Human Induced Pluripotent Stem Cell-Derived Hepatocytes.
Stem cell reportsSpectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II.
PloS oneCompound heterozygosity of a novel exon 3 frameshift (p.R357P fs*24) mutation and Y486D mutation in exon 5 of the UGT1A1 gene in a Thai infant with Crigler-Najjar syndrome type 2.
Genetics and molecular research : GMRCo-inheritance of G6PD and PK deficiencies in a neonate carrying a Novel UGT1A1 genotype associated to Crigler-Najjar type II syndrome.
Pediatric blood & cancerHuman neonatal hepatocyte transplantation induces long-term rescue of unconjugated hyperbilirubinemia in the Gunn rat.
Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation SocietyA novel stop codon mutation in exon 1 (558C>A) of the UGT1A1 gene in a Thai neonate with Crigler-Najjar syndrome type I.
Genetics and molecular research : GMRAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Síndrome Crigler-Najjar
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Expert Consensus on the Diagnosis and Management of Inherited Hyperbilirubinemia (2025).
- From Childhood Icterus to Adolescent Gallstones: Clinically Diagnosed Crigler-Najjar Syndrome Type II.
- Between Crigler-Najjar Syndrome Type II and Gilbert Syndrome: Expanding the Spectrum of Uridine Diphosphate Glucuronosyltransferase 1A1 (UGT1A1)-Related Hyperbilirubinemia.
- Development of a Physiologically Based Model of Bilirubin Metabolism in Health and Disease and Its Comparison With Real-World Data.
- Engineering Liver-Specific Promoters: A Comprehensive Review of Design, Mechanisms, and Clinical Applications in Gene Therapy.
- A Case Report of Crigler-Najjar Syndrome Type I and Schizophrenia: Exploring the Intersection of Rare Metabolic and Psychiatric Disorders.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:205(Orphanet)
- MONDO:0009044(MONDO)
- GARD:16526(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1140000(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
