Open Access

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

  • Authors:
    • Naifang Ye
    • Zhuochao Zhou
    • Huiyun Gong
    • Jialing Teng
    • Yue Han
    • Chengde Yang
    • Junna Ye
  • View Affiliations

  • Published online on: September 14, 2020     https://doi.org/10.3892/etm.2020.9219
  • Article Number: 91
  • Copyright: © Ye et al. This is an open access article distributed under the terms of Creative Commons Attribution License [CC BY_NC 4.0].

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Abstract

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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November-2020
Volume 20 Issue 5

Print ISSN: 1792-0981
Online ISSN:1792-1015

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Spandidos Publications style
Ye N, Zhou Z, Gong H, Teng J, Han Y, Yang C and Ye J: Gilbert syndrome with systemic lupus erythematosus presenting with persistent unconjugated hyperbilirubinemia: A case report. Exp Ther Med 20: 91, 2020
APA
Ye, N., Zhou, Z., Gong, H., Teng, J., Han, Y., Yang, C., & Ye, J. (2020). Gilbert syndrome with systemic lupus erythematosus presenting with persistent unconjugated hyperbilirubinemia: A case report. Experimental and Therapeutic Medicine, 20, 91. https://doi.org/10.3892/etm.2020.9219
MLA
Ye, N., Zhou, Z., Gong, H., Teng, J., Han, Y., Yang, C., Ye, J."Gilbert syndrome with systemic lupus erythematosus presenting with persistent unconjugated hyperbilirubinemia: A case report". Experimental and Therapeutic Medicine 20.5 (2020): 91.
Chicago
Ye, N., Zhou, Z., Gong, H., Teng, J., Han, Y., Yang, C., Ye, J."Gilbert syndrome with systemic lupus erythematosus presenting with persistent unconjugated hyperbilirubinemia: A case report". Experimental and Therapeutic Medicine 20, no. 5 (2020): 91. https://doi.org/10.3892/etm.2020.9219