Relation between Neonatal Icter and Gilbert Syndrome in Gloucose-6-Phosphate Dehydrogenase Deficient Subjects

Zahedpasha, Yadollah; Ahmadpour, Mousa; Akhavan‐Niaki, Haleh; Alaee, Ehsan

doi:10.7860/jcdr/2014/6674.4108

Cited by 5 publications

(3 citation statements)

References 13 publications

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“…GS is caused by a mutation in the UGT1A1 gene resulting in impairment of glucuronidation of unconjugated bilirubin within hepatocytes. Several studies have reported the coexistence of GS and hereditary spherocytosis, G6PD deficiency, gallstone disease and other diseases ( 8 , 18 , 19 ). The reports were summarized in Table II for UGT1A1 genetic mutations and related diseases during the past 4 years.…”

Section: Discussionmentioning

confidence: 99%

Gilbert syndrome with systemic lupus erythematosus presenting with persistent unconjugated hyperbilirubinemia: A case report

Zhou

Gong

et al. 2020

Exp Ther Med

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Gilbert syndrome (GS) is a hereditary unconjugated hyperbilirubinemia that results from mutations in the bilirubin uridine diphosphate-glucuronosyltransferase (UGT1A1) gene. To the best of our knowledge, there are currently no reports that focus on patients with systemic lupus erythematosus (SLE) coexisting with GS. The present study aimed to evaluate the clinical characteristics and genotype of UGT1A1 in a Chinese patient with SLE and GS. Complete medical records and laboratory data were reviewed for a patient with SLE referred to Ruijin Hospital (Shanghai, China) for treatment between March 2016 and January 2020. Genetic analysis of the UGT1A1 gene was performed by PCR amplification and Sanger sequencing. The serum total bilirubin and unconjugated bilirubin concentrations on admission were 96.2 and 86.8 µmol/l, respectively. The homozygous mutation c.1456T>G (p.Y486D) in exon 5 was detected in this patient. The patient had a good response to phenobarbital orally at a dose of 30 mg/day and a decrease in serum bilirubin was observed. Elevated unconjugated hyperbilirubinemia in SLE needs to be differentiated from other diseases, such as GS, which can be diagnosed by UGT1A1 genetic sequencing.

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Section: Discussionmentioning

confidence: 99%

Gilbert syndrome with systemic lupus erythematosus presenting with persistent unconjugated hyperbilirubinemia: A case report

Zhou

Gong

et al. 2020

Exp Ther Med

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“…Many studies have shown that there is no significant relationship between Gilbert's syndrome (promoter polymorphism) and hyperbilirubinemia in G6PD deficient neonates. [ 13 ]…”

Section: Discussionmentioning

confidence: 99%

Gilbert′s syndrome in healthy blood donors what next??

Kulkarni

Lakshmidevi

Ronghe

et al. 2016

Asian J Transfus Sci

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Settings:This study was done in a tertiary care hospital having bed strength of more than 700 beds at SDM Medical College of Medical Sciences and Hospital, Dharwad, located in Northern Karnataka.Aim:The study was done to ascertain prevalence of Gilbert's syndrome in healthy blood donors and review the literature about feasibility of utilizing blood components from Gilbert's syndrome donors.Materials and Methods:The study was done for 18 months and 7030 whole blood units were collected and all the units were subjected to mandatory transfusion-transmitted screening and all the plasma bags which were icteric on visual inspection were subjected to hematological and biochemical investigations to rule out other causes of hyperbilirubinemia.Results:Seven thousand and thirty units were collected and 445 (6.3%) were discarded due to various reasons. Of them, 50 units (0.71%) had Gilbert's syndrome. All had unconjugated hyperbilirubinemia and other hematological and liver function tests were within normal range. Statistical analysis was done to find mean, median, and standard deviation from mean and standard error of mean with lower and upper confidence limits.Conclusion:Majority of blood donors whose plasma is icteric are suffering from Gilbert's syndrome (GS). This disease does not cause any harm to donor or patient but raises a lot of concern as many severe disorders also manifest in similar way. The available literature shows that all blood components can be used from donors suffering from GS. There should be introspection. Proper guidelines are to be framed about the use and discarding of blood components in donors with GS.

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“…In the study of G6PDdeficient severe hyperbilirubinemia [35], G71R mutation in the experimental group was found to be higher than that in the control group, with a mutation rate of 55.1% and 25.0%, respectively, indicating that G71R Site mutation is a risk factor for severe hyperbilirubinemia in patients with G6PD deficiency. Fu Wenping et al [36] found that TATA box mutation was not associated with neonatal jaundice and G6PD deficiency in Guangxi; Zahedpasha et al [37] also found that promoter polymorphism was not associated with G6PD deficiency.…”

Section: G6pd Enzyme Deficiency Breast Milk Jaundice and Ugt1a1 Gene ...mentioning

confidence: 99%

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2020

I-CM

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Neonatal hyperbilirubinemia is a common clinical symptom in the neonatal period. Severe jaundice can cause neonatal bilirubin encephalopathy.Clinically because severe hyperbilirubinemia more causes, the cause of hemolysis and infection is more common, this also accounted for a certain proportion of unknown reasons. UGT1A1 is a key enzyme for bilirubin metabolism, and unexplained jaundice is associated with a decrease in UGT1A1 activity caused by mutations in UGT1A1 gene, leading to neonatal persistent jaundice. The relationship between neonatal unexplained hyperbilirubinemia and UGT1A1 gene polymorphism was reviewed.

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Relation between Neonatal Icter and Gilbert Syndrome in Gloucose-6-Phosphate Dehydrogenase Deficient Subjects

Cited by 5 publications

References 13 publications

Gilbert syndrome with systemic lupus erythematosus presenting with persistent unconjugated hyperbilirubinemia: A case report

Gilbert syndrome with systemic lupus erythematosus presenting with persistent unconjugated hyperbilirubinemia: A case report

Gilbert′s syndrome in healthy blood donors what next??

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