Gilbert or Crigler–Najjar syndrome? Neonatal severe unconjugated hyperbilirubinemia with P364L UGT1A1 homozygosity

被引:0
作者
Laura Cozzi
Federica Nuti
Irene Degrassi
Daniela Civeriati
Giulia Paolella
Gabriella Nebbia
机构
[1] Università Degli Studi Di Milano,Department of Pediatrics
[2] Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico,undefined
[3] Pediatric Liver Unit,undefined
[4] Vittore Buzzi Children’s Hospital,undefined
来源
Italian Journal of Pediatrics | / 48卷
关键词
p.Pro364Leu; UGT1A1; Neonatal severe unconjugated hyperbilirubinemia; Gilbert syndrome; Crigler-Najjar syndrome; Case report;
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[1]  
Huang CS(2000)Variations of the bilirubin uridine-diphosphoglucuronosyl transferase 1A1 gene in healthy Taiwanese Pharmacogenetics 10 539-544
[2]  
Luo GA(2004)Genetic polymorphisms of bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese patients with Crigler-Najjar syndrome or Gilbert’s syndrome as well as in healthy Japanese subjects J Gastroenterol Hepatol 19 1023-1028
[3]  
Huang MJ(2000)Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate- glucuronosyltransferase gene Pediatrics 106 E59-273
[4]  
Yu SC(2017)Differences in UGT1A1 gene mutations and pathological liver changes between Chinese patients with Gilbert syndrome and Crigler- Najjar syndrome type II Medicine (Baltimore) 96 e8620-260
[5]  
Yang SS(1998)Contribution of two missense mutations G71R and Y486D of the bilirubin UDP glycosyltransferase gene to phenotypes of Gilbert’s syndrome and Crigler-Najjar syndrome type II Biochim Biophys Acta 1406 267-7
[6]  
Takeuchi K(1981)The prenatal and postnatal development of UDP-glucuronyltransferase activity towards bilirubin and the effect of premature birth on this activity in the human liver Biochem J 196 257-38
[7]  
Kobayashi Y(2021)Epigenetics and microRNAs in UGT1As Hum Genomics 15 30-F466
[8]  
Tamaki S(2016)Clinical significance of UGT1A1 genetic analysis in Chinese neonates with severe hyperbilirubinemia Pediatr Neonatol 57 310-88
[9]  
Ishihara T(2015)Spectrum of UGT1A1 variations in Chinese patients with Crigler-Najjar Syndrome Type II PLoS One 10 e0126263-248
[10]  
Maruo Y(2014)UGT1A1 sequence variants associated with risk of adult hyperbilirubinemia: a quantitative analysis Gene 552 32-457