p.Gly693Arg Homozygote Mutation in Dubin-Johnson Syndrome with Atypical Liver Biopsy due to Reactivation of Hepatitis B Concomitant with Persistent Loss of Kidney Function
Keywords:
Dubin-Johnson syndrome, homozygote mutation, p.Gly693Arg mutation, Hepatitis B reactivationAbstract
Dubin-Johnson syndrome is a rare genetic disease that causes impaired transport of bilirubin. In most cases, there will be no symptoms. However, some people might develop jaundice due to certain conditions. In this case, we would like to present a 54-year-old male patient with Dubin-Johnson syndrome confirmed through genetic analysis showing homozygote mutation of p.Gly693Arg, with no apparent bile deposition in liver biopsy and reactivation of hepatitis B. The Patient had no symptoms since birth and was recently found to have an increased level of direct bilirubin. Further inspection showed a familial pattern of the disease. This is a unique case of homozygote mutation with p.Gly693Arg with atypical presentation of liver biopsy and reactivation of hepatitis B with no clinical manifestation.References
Dubin IN, Johnson FB. Chronic idiopathic jaundice with unidentified pigment in liver cells: a new clinicopathologic entity with a report of 12 cases. Medicine (Baltimore). 1954;33(3):155-97.
Cebrián García A, Ruiz-Clavijo García D, Larrea Ramírez A, et al. Dubin-Johnson syndrome as a laparoscopic finding. Rev Esp Enferm Dig. 2021;113(8):610-1.
Zhao C, Shi X, Zhang Y, Huang H. Case report: Three novel pathogenic ABCC2 mutations identified in two patients with Dubin-Johnson syndrome. Front Genet. 2022;13:895247.
Paulusma CC, Kool M, Bosma PJ, et al. A mutation in the human canalicular multispecific organic anion transporter gene causes the Dubin-Johnson syndrome. Hepatology. 1997;25(6):1539-42.
Talaga ZJ, Vaidya PN. Dubin-Johnson syndrome. StatPearls. Treasure Island (FL): StatPearls Publishing Copyright © 2023, StatPearls Publishing LLC.; 2023.
Kim SU, Han KH, Ahn SH. Transient elastography in chronic hepatitis B: an Asian perspective. World J Gastroenterol. 2010;16(41):5173-80.
Dadhwal US, Kumar V. Benign bile duct strictures. Med J Armed Forces India. 2012;68(3):299-303.
Hunter FM, Sparks RD, Flinner RL. Hepatitis with resulting mobilization of hepatic pigment in a patient with Dubin-Johnson syndrome. Gastroenterology. 1964;47:631-5.
Ware AJ, Eigenbrodt EH, Shorey J, et al. Viral hepatitis complicating the Dubin-Johnson syndrome. Gastroenterology. 1972;63(2):331-9.
Varma RR, Grainger JM, Scheuer PJ. A case of the Dubin-Johnson syndrome complicated by acute hepatitis. Gut. 1970;11(10):817-21.
Wu L, Li Y, Song Y, et al. A recurrent ABCC2 p.G693R mutation resulting in loss of function of MRP2 and hyperbilirubinemia in Dubin-Johnson syndrome in China. Orphanet J Rare Dis. 2020;15(1):74.
Nies AT, Keppler D. The apical conjugate efflux pump ABCC2 (MRP2). Pflugers Arch. 2007;453(5):643-59.
Chen ZS, Tiwari AK. Multidrug resistance proteins (MRPs/ABCCs) in cancer chemotherapy and genetic diseases. FEBS J. 2011;278(18):3226-45.
Laouari D, Yang RC, Veau C, et al. Two apical multidrug transporters, P-gp and MRP2, are differently altered in chronic renal failure. Am J Physiol Renal Physiol. 2001;280:F636-45.
Bhimma R, Coovadia HM. Hepatitis B virus-associated nephropathy. Am J Nephrol. 2004;24(2):198-211.
Wang R, Wu Y, Zheng B, et al. Clinicopathological characteristics and prognosis of hepatitis B-associated membranous nephropathy and idiopathic membranous nephropathy complicated with hepatitis B virus infection. Sci Rep. 2021;11(1):18407.
Hernández-Rodríguez J, Alba MA, Prieto-González S, et al. Diagnosis and classification of polyarteritis nodosa. J Autoimmun. 2014;48–49:84–9.
Singh A, Koritala T, Jialal I. Unconjugated hyperbilirubinemia. 2019.
Khan S, Ali D, Rehman SU. A case report of unexplained persistent conjugated hyperbilirubinemia with normal liver transaminases over 23 years: remember Dubin-Johnson syndrome. J Rare Dis. 2023;2(1):10.
Marschall HU, Wagner M, Zollner G, et al. Combined rifampicin and ursodeoxycholic acid treatment does not amplify rifampicin effects on hepatic detoxification and transport systems in humans. Digestion. 2012;86(3):244–9.
Siddiqui AH, Alsabe MR, Tehseen Z, et al. Dubin-Johnson syndrome: A case report. Cureus. 2023;15(3):e36115.
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