Cargando…

A novel UGT1A1 gene mutation causing severe unconjugated hyperbilirubinemia: a case report

BACKGROUND: Crigler-Najjar syndrome (CNs) presents as unconjugated hyperbilirubinemia, as a result of UGT1A1 deficiency, and can be categorized in a severe (type I) and mild (type II) phenotype. CNs type II patients usually benefit from phenobarbital treatment that induces residual UGT1A1 activity....

Descripción completa

Detalles Bibliográficos
Autores principales:	Shi, Xiaoxia, Aronson, Sem, Khan, Ahmed Sharif, Bosma, Piter J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6540546/ https://www.ncbi.nlm.nih.gov/pubmed/31142299 http://dx.doi.org/10.1186/s12887-019-1555-y

Ejemplares similares

Biliverdin Reductase inhibitors did not improve severe unconjugated hyperbilirubinemia in vivo
por: van Dijk, Remco, et al.
Publicado: (2017)

Low efficacy of recombinant SV40 in Ugt1a1(-/-) mice with severe inherited hyperbilirubinemia
por: Shi, Xiaoxia, et al.
Publicado: (2021)

Genetic Spectrum of UGT1A1 in Korean Patients with Unconjugated Hyperbilirubinemia
por: Kim, Jin Ju, et al.
Publicado: (2020)

UGT1A1 mutation association with increased bilirubin levels and severity of unconjugated hyperbilirubinemia in ABO incompatible newborns of China
por: Yang, Hui, et al.
Publicado: (2021)

Gilbert or Crigler–Najjar syndrome? Neonatal severe unconjugated hyperbilirubinemia with P364L UGT1A1 homozygosity
por: Cozzi, Laura, et al.
Publicado: (2022)

Combined Effects of UGT1A1 and SLCO1B1 Variants on Chinese Adult Mild Unconjugated Hyperbilirubinemia
por: Bai, Jie, et al.
Publicado: (2019)

UGT1A1 genotypes and unconjugated hyperbilirubinemia phenotypes in post-neonatal Chinese children: A retrospective analysis and quantitative correlation
por: Abuduxikuer, Kuerbanjiang, et al.
Publicado: (2018)

A possible case of bictegravir-associated severe unconjugated hyperbilirubinemia
por: Parmar, Kanak, et al.
Publicado: (2023)

A Quantitative In Vitro Potency Assay for Adeno-Associated Virus Vectors Encoding for the UGT1A1 Transgene
por: Aronson, Sem J., et al.
Publicado: (2020)

Optimizing Exchange Transfusion for Severe Unconjugated Hyperbilirubinemia: Studies in the Gunn Rat
por: Schreuder, Andrea B., et al.
Publicado: (2013)

Efficacy of AAV8-hUGT1A1 with Rapamycin in neonatal, suckling, and juvenile rats to model treatment in pediatric CNs patients
por: Shi, Xiaoxia, et al.
Publicado: (2020)

The Potential Protective Effect and Underlying Mechanisms of Physiological Unconjugated Hyperbilirubinemia Mediated by UGT1A1 Antisense Oligonucleotide Therapy in a Mouse Model of Cyclosporine A-Induced Chronic Kidney Disease
por: Marghani, Basma H., et al.
Publicado: (2022)

Gilbert Syndrome with Concomitant Hereditary Spherocytosis Presenting with Moderate Unconjugated Hyperbilirubinemia
por: Aiso, Mitsuhiko, et al.
Publicado: (2017)

Identification of Promotor and Exonic Variations, and Functional Characterization of a Splice Site Mutation in Indian Patients with Unconjugated Hyperbilirubinemia
por: Gupta, Neha, et al.
Publicado: (2015)

Unconjugated hyperbilirubinemia in a blood donor: Chance finding due to unusual plasma discoloration
por: Jain, Ashish, et al.
Publicado: (2018)

Pazopanib-induced hyperbilirubinemia is associated with Gilbert's syndrome UGT1A1 polymorphism
por: Xu, C-F, et al.
Publicado: (2010)

Profiling of UGT1A1(*)6, UGT1A1(*)60, UGT1A1(*)93, and UGT1A1(*)28 Polymorphisms in Indonesian Neonates With Hyperbilirubinemia Using Multiplex PCR Sequencing
por: Amandito, Radhian, et al.
Publicado: (2019)

Analysis of the UGT1A1 Genotype in Hyperbilirubinemia Patients: Differences in Allele Frequency and Distribution
por: Mi, Xiao-xiao, et al.
Publicado: (2019)

Commentary: Profiling of UGT1A1(*)6, UGT1A1(*)60, UGT1A1(*)93, and UGT1A1(*)28 Polymorphisms in Indonesian Neonates With Hyperbilirubinemia Using Multiplex PCR Sequencing
por: Heydari, Mohammad Reza, et al.
Publicado: (2020)

Association of Neonatal Hyperbilirubinemia with UGT1A1 Gene Polymorphisms: A Meta-Analysis
por: Yu, Zibi, et al.
Publicado: (2015)

Characteristics of the heme catabolic pathway in mild unconjugated hyperbilirubinemia and their associations with inflammation and disease prevention
por: Mölzer, Christine, et al.
Publicado: (2017)

Atazanavir-induced unconjugated hyperbilirubinemia prevents vascular hyporeactivity during experimental human endotoxemia
por: Dorresteijn, Mirrin J., et al.
Publicado: (2023)

Gilbert syndrome with systemic lupus erythematosus presenting with persistent unconjugated hyperbilirubinemia: A case report
por: Ye, Naifang, et al.
Publicado: (2020)

The Effect of UGT1A1 Promoter Polymorphism in the Development of Hyperbilirubinemia and Cholelithiasis in Hemoglobinopathy Patients
por: AlFadhli, Suad, et al.
Publicado: (2013)

Preclinical Development of an AAV8-hUGT1A1 Vector for the Treatment of Crigler-Najjar Syndrome
por: Collaud, Fanny, et al.
Publicado: (2018)

UGT1A1 gene and neonatal hyperbilirubinemia: a preliminary study from Bengkulu, Indonesia
por: Amandito, Radhian, et al.
Publicado: (2018)

UGT1A1 Genetic Variations and a Haplotype Associated with Neonatal Hyperbilirubinemia in Indonesian Population
por: Wisnumurti, Dewi A., et al.
Publicado: (2018)

“Gilbert’s-like” syndrome as part of a spectrum of persistent unconjugated hyperbilirubinemia in post-chronic hepatitis patients
por: Ye, Jin, et al.
Publicado: (2018)

Evaluation of Treatment Thresholds for Unconjugated Hyperbilirubinemia in Preterm Infants: Effects on Serum Bilirubin and on Hearing Loss?
por: Hulzebos, Christian V., et al.
Publicado: (2013)

Hyperbilirubinemia Maintained by Chronic Supplementation of Unconjugated Bilirubin Improves the Clinical Course of Experimental Autoimmune Arthritis
por: Sykora, Tomas, et al.
Publicado: (2021)

Association of UGT1A1 Variants and Hyperbilirubinemia in Breast-Fed Full-Term Chinese Infants
por: Zhou, Youyou, et al.
Publicado: (2014)

Glucose induces intestinal human UDP-glucuronosyltransferase (UGT) 1A1 to prevent neonatal hyperbilirubinemia
por: Aoshima, Naoya, et al.
Publicado: (2014)

Hyperbilirubinemia in atazanavir treated HIV-infected patients: the impact of the UGT1A1*28 allele
por: Panagopoulos, Periklis, et al.
Publicado: (2017)

The role of UGT1A1 (c.-3279 T > G) gene polymorphisms in neonatal hyperbilirubinemia susceptibility
por: Li, Zijin, et al.
Publicado: (2020)

UGT1A1 variants in Chinese Uighur and Han newborns and its correlation with neonatal hyperbilirubinemia
por: Yang, Hui, et al.
Publicado: (2022)

Inflammatory signature of cerebellar neurodegeneration during neonatal hyperbilirubinemia in Ugt1(-/-) mouse model
por: Vodret, Simone, et al.
Publicado: (2017)

The Spectrum of Hemolytic Disease of the Newborn: Evaluating the Etiology of Unconjugated Hyperbilirubinemia Among Neonates Pertinent to Immunohematological Workup
por: Routray, Suman S, et al.
Publicado: (2021)

Role of transcranial Doppler in assessment of cerebral blood flow in full term neonates with extreme unconjugated hyperbilirubinemia
por: Kamel, Sara Mahmoud, et al.
Publicado: (2022)

Long-Term Effects of Biliverdin Reductase a Deficiency in Ugt1(−/−) Mice: Impact on Redox Status and Metabolism
por: Bortolussi, Giulia, et al.
Publicado: (2021)

Associations between UGT1A1 and SLCO1B1 polymorphisms and susceptibility to neonatal hyperbilirubinemia in Thai population
por: Atasilp, Chalirmporn, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_v5c7omknsj6hr26jgavo49kjba