Madeeha Kalsekar¹, Sara Vidha² and Shaden Al Mahamed³*

¹Candidate; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, UAE
²Candidate; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, UAE
³Parkview Hospital, Mediclinic Middle East, Dubai, UAE

*Corresponding Author: Shaden Najeb Al Mahamed, Parkview Hospital, Mediclinic Middle East, Dubai, UAE.

Received: March 10, 2025; Published: April 04, 2025

Abstract

Background: Dubin-Johnson syndrome (DJS) and familial hypercholanemia (FHC) are rare hereditary cholestatic liver diseases affecting bilirubin and bile acid metabolism, respectively. DJS is characterized by chronic conjugated hyperbilirubinemia without significant liver dysfunction, whereas FHC leads to elevated serum bile acids and potential malabsorption of fat-soluble vitamins. While both conditions have been individually reported, their coexistence in a single patient is extremely rare. This case report describes a pediatric patient diagnosed with both conditions, highlighting the unique genetic findings and clinical presentation. It contributes to the understanding of overlapping cholestatic disorders and emphasizes the role of genetic testing in early diagnosis and management.

Case Summary: We report the case of a 13-month-old Chinese male who presented with persistent jaundice since birth, scleral icterus, and clay-colored stools. Liver function tests showed direct hyperbilirubinemia with mild transaminases and preserved synthetic liver function. Imaging studies, including hepatobiliary scintigraphy, ruled out biliary atresia. A comprehensive genetic panel identified two heterozygous variants in the ABCC2 gene, suggestive of DJS, and a heterozygous pathogenic variant in the SLC10A1 gene, associated with FHC2. Our patient remained asymptomatic, with only transitory peaks of mildly elevated transaminases. Treatment with ursodeoxycholic acid and fat-soluble vitamin supplementation led to improvement.

Conclusion: This case highlights the clinical implications of coexisting DJS and FHC2. It underscores the importance of genetic testing in pediatric cholestatic liver diseases for accurate diagnosis and tailored management. The coexistence of DJS and FHC2 suggests that multiple genetic defects may contribute to disease severity, necessitating long-term follow-up and monitoring for potential complications.

Keywords: Dubin-Johnson Syndrome; Familial Hypercholanemia; Cholestatic Liver Disease; Genetic Liver Disorders; Pediatric Hepatology; Case Report

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Citation

Citation: Shaden Al Mahamed., et al. “Dubin-Johnson Syndrome and Familial Hypercholanemia Type 2 in Infant Patient - Impact of Two Genes on Liver Cholestasis: Case Report and Literature Review".Acta Scientific Gastrointestinal Disorders 8.5 (2025): 03-06.

Copyright

Copyright: © 2025 Shaden Al Mahamed., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.