A Case of Dubin-Johnson Syndrome in Pregnancy

Gupta, Avantika; Tiwari, Purnima; Sachdeva, Poonam

doi:10.7759/cureus.4048

Cited by 6 publications

(4 citation statements)

References 10 publications

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“…Unlike other conditions that cause hyperbilirubinemia, such as liver disease, DJS does not typically cause pruritus, as serum total bile acid levels remain normal. In some cases, women with the condition may not exhibit any symptoms, but hyperbilirubinemia or obvious jaundice may develop when they start using oral contraceptives or become pregnant [ 6 ].…”

Section: Discussionmentioning

confidence: 99%

Dubin-Johnson Syndrome: A Case Report

Siddiqui¹,

Alsabe²,

Tehseen³

et al. 2023

Cureus

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Dubin-Johnson syndrome (DJS) is a rare autosomal recessive genetic disease caused by mutations in the bilirubin transporter MRP2. It is characterized by recurrent episodes of jaundice and conjugated hyperbilirubinemia. Numerous instances of hyperbilirubinemia disorders resembling Dubin-Johnson syndrome have been documented, but they differ in the clinical presentation, amount of conjugated bilirubin present, and their reaction to therapy. Most people with this syndrome do not have any symptoms, so their cases are often misdiagnosed and not properly taken care of. Here, we present a case of a teenage male patient who complained of recurring jaundice and abdominal pain. Further examination and testing revealed that the patient had been jaundiced since birth and had a family history of the condition. Conservative management was implemented, and follow-up demonstrated a positive prognosis. This case is a rare example of Dubin-Johnson syndrome, although patients with the condition generally have a normal life expectancy and only require conservative management.

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Section: Discussionmentioning

confidence: 99%

Dubin-Johnson Syndrome: A Case Report

Siddiqui¹,

Alsabe²,

Tehseen³

et al. 2023

Cureus

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“…A review of the condition showed that the patient had been pregnant three times, and that yellow staining of the systemic skin, mucosa, and sclera was present during each pregnancy. The patient was diagnosed with acute cholecystitis, and the corresponding treatment was adopted, given the pregnancy factor[ 23 - 26 ]. The main pathological changes observed in the liver tissue were massive pigment particle deposition in hepatocytes and significant pigment granules in the central area of the lobules.…”

Section: Discussionmentioning

confidence: 99%

Clinical characteristics and ABCC2 genotype in Dubin-Johnson syndrome: A case report and review of the literature

Zhao

Zhu

2021

WJCC

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BACKGROUND Dubin-Johnson syndrome (DJS) is a benign autosomal recessive liver disease involving mutations of the ABCC2 gene. It is characterized by chronic or intermittent conjugated hyperbilirubinemia, with chronic idiopathic jaundice as the main clinical manifestation. Genetic alterations of the ABCC2 gene are commonly used for diagnosing DJS; however, the causative ABCC2 point mutation in Chinese patients remains unknown. Research on ABCC2 mutations in Chinese DJS patients is extremely rare, and the diagnosis of DJS remains limited. The routine analysis of ABCC2 mutations is helpful for the diagnosis of DJS. Here, we report the clinical characteristics and ABCC2 genotype of an adult female DJS patient. This article is to expound the discovery of more potentially pathogenic ABCC2 variants will that contribute to DJS identification. CASE SUMMARY This study investigated a woman referred for DJS and involved clinical and genetic analyses. ABCC2 mutations were identified by next-generation sequencing (NGS). The patient showed intermittent jaundice and conjugated hyper-bilirubinemia. Histopathological examinations were consistent with the typical phenotype of DJS. Genetic diagnostic analysis revealed an ABCC2 genotype exhibiting a pathogenic variant, namely c.2443C>T (p.Arg815*), which has not been reported previously in the domestic or foreign literature. CONCLUSION Pathogenic ABCC2 mutations play an important role in the diagnosis of DJS, especially in patients with atypical presentations. Currently, NGS is used in the routine analysis of DJS cases and such tests of further cases will better illuminate the relationship between various genotypes and phenotypes of DJS.

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“…In women, the condition may be subclinical and only present with jaundice when contraceptives are used or when they are pregnant, with very few reports being the association between Dubin Johnson syndrome and pregnancy. [5][6][7][8][9][10] The clinical examination of patients is normal. Itching is not a symptom.…”

Section: Discussionmentioning

confidence: 99%

“…In the neonatal period the disease is rarely present and should only be suspected when there is unexplained hyperbilirubinemia of moderate to severe range and long evolution. 2,4,10…”

Section: Discussionmentioning

confidence: 99%

A case of dubin johnson syndrome in twin pregnancy

María¹,

Ibargüengoitia-Ochoa²

2020

IPCB

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Background: Dubin Johnson syndrome is a variety of inherited hyperbilirubinemia and is recognized by a low elevation of conjugated bilirubin without other signs of liver damage. Objective: To present perinatal results of a patient diagnosed with Dubin Johnson syndrome. Methods: The clinical file of a patient diagnosed with Dubin Johnson syndrome during pregnancy, treated at the Instituto Nacional de Perinatología was reviewed. Results: 34-year-old patient with no history of fever, pruritus, malaise or abdominal pain; Due to the macroscopic characteristics of the liver during a laparoscopic cholecystectomy at 23 years of age, a biopsy was taken which confirmed the diagnosis of Dubin-Johnson syndrome. She began prenatal control at 17 weeks gestation. Serial bilirubin determinations ranged between 3.4 and 4.5 mg / dl. Intrauterine growth restriction was presented in one of the fetuses. Conclusion: Dubin Johnson syndrome is a benign condition, the disease must be differentiated from other conditions that present hyperbilirubinemia specifically in pregnancy in order to stratify management.

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A Case of Dubin-Johnson Syndrome in Pregnancy

Cited by 6 publications

References 10 publications

Dubin-Johnson Syndrome: A Case Report

Dubin-Johnson Syndrome: A Case Report

Clinical characteristics and ABCC2 genotype in Dubin-Johnson syndrome: A case report and review of the literature

A case of dubin johnson syndrome in twin pregnancy

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