Die Prävalenz des Gilbert-Syndroms in Deutschland

Sieg, Andreas; Arab, Lenore; Schlierf, G; Stiehl, Anselm; Kommerell, B.

doi:10.1055/s-2008-1068222

Cited by 66 publications

(18 citation statements)

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“…18,19 The clinical diagnosis of Gilbert syndrome occurs in approximately 3%–8.6% of the population. 20–22 Two frequent polymorphisms associated with Gilbert syndrome are a missense mutation in exon 1 c.211G>A generating a p.G71R change ( UGT1A1*6 ) and a c.-3279T>G in the promoter region that is linked to the A(TA)7TAA in the TATA box ( UGT1A1*28 ). 23 …”

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confidence: 99%

Bilirubin Uridine Diphosphate-Glucuronosyltransferase Variation Is a Genetic Basis of Breast Milk Jaundice

Maruo

Morioka

Fujito³

et al. 2014

The Journal of Pediatrics

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Objective To evaluate the role of bilirubin UDP-glucuronosyltransferase family 1, polypeptide A1 (UGT1A1) gene variations on prolonged unconjugated hyperbilirubinemia associated with breast milk feeding (breast milk jaundice [BMJ]). Study design UGT1A1 gene allelic variation was analyzed in 170 Japanese infants with BMJ with polymerase chain reaction-direct sequencing, and their genotypes compared with serum bilirubin concentrations. In 62 of 170 infants, serum bilirubin concentration was followed after 4 months of life. Genotypes were examined in 55 infants without BMJ. Results Of 170 infants with BMJ, 88 (51.8%) were homozygous UGT1A1*6. Serum bilirubin concentrations (21.8 ± 3.65 mg/dL) were significantly greater than in infants with other genotypes (P < .0001). The Gilbert UGT1A1*28 allele was not detected in infants with BMJ, except in an infant who was compound heterozygous with UGT1A1*6. At 4 months of age, serum bilirubin concentration improved to >1 mg/dL, except in 2 infants who were homozygous UGT1A1*7. Homozygous UGT1A1*6 was not detected in the control group. Conclusion One-half of the infants with BMJ were homozygous UGT1A1*6 and exhibited a serum bilirubin concentration significantly greater than other genotypes. This finding indicates that UGT1A1*6 is a major cause of BMJ in infants in East Asia. Previous finding have demonstrated that 5β-pregnane-3α,20β-diol present in breast milk inhibits p.G71R-UGT1A1 bilirubin glucuronidation activity. Thus, prolonged unconjugated hyperbilirubinemia may develop in infants with UGT1A1*6 who are fed breast milk.

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confidence: 99%

Bilirubin Uridine Diphosphate-Glucuronosyltransferase Variation Is a Genetic Basis of Breast Milk Jaundice

Maruo

Morioka

Fujito³

et al. 2014

The Journal of Pediatrics

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“…Gilbert syndrome is one of the most prevalent congenital metabolic disorders with a prevalence of 3-8.6% of the population (5,6). UGT1A1 consists of five exons, a TATA box, and a phenobarbital responsive enhancer module (gtPBREM) (7,8).…”

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Contribution of UGT1A1 variations to chemotherapy-induced unconjugated hyperbilirubinemia in pediatric leukemia patients

et al. 2016

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Background: Chemotherapy for malignant neoplasms sometimes induces unconjugated hyperbilirubinemia, resulting in the early cessation of treatment. We evaluated the role of variations in the bilirubin uridine-5-diphosphate (UDP)-glucuronosyltransferase gene (UGT1A1) in unconjugated hyperbilirubinemia development during chemotherapy in pediatric patients with leukemia. Methods: UGT1A1 allelic variations were evaluated in 25 Japanese pediatric leukemia patients with hyperbilirubinemia (peak serum bilirubin concentration 3.57 ± 1.02 mg/dl) and 25 control patients without hyperbilirubinemia (0.92 ± 0.32 mg/dl) by PCR-direct sequencing. results: In the hyperbilirubinemic group, 22 of 25 patients showed biallelic variations of UGT1A1. Nine (36%) patients were homozygous for UGT1A1*6 and eight (32%) were compound heterozygous for UGT1A1*6 and UGT1A1*28. Three (12%) patients were homozygous for UGT1A1*28. There were no biallelic variations in UGT1A1 in the non-hyperbilirubinemic group. The allelic frequencies of UGT1A1*6 in the hyperbilirubinemic group (0.58) was significantly higher than those of the non-hyperbilirubinemic group (0.1) (χ 2 = 25.7, P < 0.05). conclusion: The high frequency of biallelic variations of UGT1A1 in the hyperbilirubinemic group suggests an association with Gilbert syndrome. Therefore, it is not necessary to cease chemotherapy in patients with these mutations who develop unconjugated hyperbilirubinemia without associated liver dysfunction.

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“…The criteria for the GS diagnosis were: fasting unconjugated bilirubin >1 mg/dL, normal liver function tests, lack of diseases that may cause bilirubin elevation and a normal abdominal ultrasonography (Sieg et al 1987). The blood samples were collected after an overnight fast.…”

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confidence: 99%

“…As a result of this disorder, serum UCB is above than normal levels (Sieg et al 1987). The prevalence of GS has been reported to be between 3 and 10 percent in different populations (Kundur et al 2015).…”

Section: Introductionmentioning

confidence: 99%

Relation between unconjugated bilirubin and RDW, neutrophil to lymphocyte ratio, platelet to lymphocyte ratio in Gilbert’s syndrome

et al. 2016

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Background: Unconjugated bilirubin (UCB) plays a protective role in coronary artery disease. Red cell distribution width (RDW), neutrophil to lymphocyte ratio (NLR) and platelet to lymphocyte ratio (PLR) are inflammatory biomarkers and higher levels are related to atherosclerosis and adverse cardiovascular events. Aim:We aimed to investigate the relation between UCB levels and RDW, NLR, PLR in people with Gilbert's syndrome (GS). Materials and methods:We selected 2166 subjects (1082 with GS and 1084 healthy controls) from a database having 33,695 people. RDW, NLR and PLR were investigated in the subjects with GS and compared with the healthy controls. Linear regression analysis was used to evaluate the relation between variables.Results: NLR and PLR were higher in the subjects with GS compared to the controls (p < 0.001). RDW was similar in both groups (p = 0.318). UCB was negatively correlated with lymphocyte counts (p = 0.040), and positively correlated with RDW (p < 0.001) and PLR (p = 0.037) in the subjects with GS. There was no significant correlation between UCB and NLR (p = 0.078). RDW (p < 0.001) and lymphocyte counts (p = 0.030) were significantly associated with UCB levels in the regression analysis conducted in the subjects with GS. Conclusion:There is a negative association between UCB and NLR, PLR due to low amounts of lymphocyte counts, which causes increased risk of CVD. These results suggest that the cardio-protective effect of UCB is due to both antioxidative and anti-inflammatory ways indirectly.Keywords: Gilbert's syndrome, Red cell distribution width, Neutrophil to lymphocyte ratio, Platelet to lymphocyte ratio, Unconjugated bilirubin © 2016 The Author(s). This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.

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Die Prävalenz des Gilbert-Syndroms in Deutschland

Cited by 66 publications

References 0 publications

Bilirubin Uridine Diphosphate-Glucuronosyltransferase Variation Is a Genetic Basis of Breast Milk Jaundice

Bilirubin Uridine Diphosphate-Glucuronosyltransferase Variation Is a Genetic Basis of Breast Milk Jaundice

Contribution of UGT1A1 variations to chemotherapy-induced unconjugated hyperbilirubinemia in pediatric leukemia patients

Relation between unconjugated bilirubin and RDW, neutrophil to lymphocyte ratio, platelet to lymphocyte ratio in Gilbert’s syndrome

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