A Case of Dubin-Johnson Syndrome Presenting as Neonatal Cholestasis With Paucity of Interlobular Bile Ducts

Chan, Kara L; Varughese, Natasha; Jones, Peter M.; Zwick, David L.; Rajaram, Veena; Lee, Michael; Ramirez, Charina M.

doi:10.1177/1093526620980577

Cited by 2 publications

(1 citation statement)

References 14 publications

(27 reference statements)

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“…The combined impact of these novel mutations may explain the persistence and severity of symptoms such as prolonged elevation in bilirubin levels. [21,22] A systematic approach to collecting and analyzing data across diverse cases is vital to discerning potential patterns and correlations, enabling more accurate prediction of disease trajectories, and informing therapeutic strategies. Leveraging in vitro expression systems or animal models to mirror these mutations can offer invaluable insights into their phenotypic manifestations.…”

Section: Discussionmentioning

confidence: 99%

Clinical characteristics and follow-up of a newborn with Dubin–Johnson Syndrome: A clinical case report

Zhang,

Zuo,

Gao

2024

Medicine

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Background: Dubin–Johnson syndrome (DJS) is a rare autosomal recessive liver disorder, characterized by conjugated hyperbilirubinemia. This case report investigates the clinical characteristics and longitudinal outcomes of a neonate diagnosed with DJS. Methods: A newborn presented with elevated bilirubin levels and abnormal liver enzyme readings. Comprehensive genetic evaluation was conducted, which included peripheral blood sample collection from the infant and both parents after obtaining informed consent and high-throughput trio exome sequencing was performed. The genetic analysis revealed 2 significant mutations in the ABCC2 gene on chromosome 10: the insertion mutation c.4237(exon30)_c.4238(exon30)ins CT, inherited from the father, and the missense mutation c.517(exon5)G > A, inherited from the mother. Both mutations were classified as pathogenic according to the ACMG 2015 guidelines, indicating a compound heterozygous inheritance pattern. The patient’s treatment regimen included phototherapy, which was initiated to address her jaundice upon admission. To support liver function and regulate gut activity, oral ursodeoxycholic acid (20 mg/kg/dose, twice a day) and probiotics were administered. Additionally, a postdischarge medication plan involving a low-dose regimen of phenobarbital (3.5 mg/kg/dose, twice a day) was implemented for 2 weeks. Results: During a 2-year follow-up after discharge, the infant’s bilirubin levels significantly decreased, and liver enzymes, including GGT, progressively normalized. Conclusion: This case report enhances the understanding of DJS in neonates by emphasizing the clinical ramifications of compound heterozygous mutations within the ABCC2 gene and documenting the evolution of the disease. The gradual normalization of liver function tests suggests potential compensatory mechanisms in response to the genetic abnormalities in neonates with DJS. The correlation between the patient’s genetic profile of compound heterozygosity and her milder clinical phenotype warrants attention, suggesting that this specific genetic configuration may be associated with less severe manifestations of the disease. The necessity for long-term follow-up is highlighted, recognizing that intercurrent stress conditions could influence the hepatic profile and potentially exacerbate symptoms. Such sustained observation is crucial to further delineate the genomic and clinical landscape of DJS, offering opportunities to refine prognostic and therapeutic approaches.

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Section: Discussionmentioning

confidence: 99%

Clinical characteristics and follow-up of a newborn with Dubin–Johnson Syndrome: A clinical case report

Zhang,

Zuo,

Gao

2024

Medicine

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Differential Diagnosis of Conjugated Hyperbilirubinemia in Infancy (Literature Review)

Gudkov,

Dmitriyev,

Fedina

et al. 2024

I.P. Pavlov Russian Medical Biological Herald

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INTRODUCTION: Conjugated hyperbilirubinemia in newborns may evidence prognostically dangerous diseases. However, the variety of causes and rarity of some of them makes differential diagnosis challenging. AIM: To determine the order of diagnostic actions to exclude, first of all, the most probable causes of conjugated hyperbilirubinemia. The review presents relevant information on diseases of newborns and children, running with elevation of the serum level of conjugated bilirubin. The search was carried out in PubMed, MEDLINE, eLibrary.ru databases for 2016–2023. The issues of terminology, etiology and risk factors are briefly covered. The presented pathologies include biliary atresia and Alagille syndrome, infectious and iatrogenic hepatopathies, various forms (including the new ones) of progressive familial intrahepatic cholestasis, disorders in synthesis of the primary bile acids, α1-antitrypsin deficiency, galactosemia, tyrosinemia type 1, cystic malformations, mitochondrial diseases and some other rare diseases accompanied by conjugated hyperbilirubinemia. Brief diagnostic characteristics of the presented diseases are given. CONCLUSION: The differential diagnosis of conjugated hyperbilirubinemia in newborns and children is a complex problem requiring immediate solution by successive exclusion of the most probable diseases, first of all, biliary atresia, Alagille syndrome, infectious and iatrogenic causes.

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A Case of Dubin-Johnson Syndrome Presenting as Neonatal Cholestasis With Paucity of Interlobular Bile Ducts

Cited by 2 publications

References 14 publications

Clinical characteristics and follow-up of a newborn with Dubin–Johnson Syndrome: A clinical case report

Clinical characteristics and follow-up of a newborn with Dubin–Johnson Syndrome: A clinical case report

Differential Diagnosis of Conjugated Hyperbilirubinemia in Infancy (Literature Review)

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