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

Penulis: Juferdy Kurniawan
Informasi
JurnalActa Medica Indonesiana
PenerbitActa Medica Indonesiana 57 (3), 387-395, 2025
Volume & EdisiVol. 57,Edisi 3
Halaman387-395
Tahun Publikasi2025
Jenis SumberGoogle Scholar
Abstrak
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.
Dokumen & Tautan

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