The Icteric Riddle: A Diagnostic Conundrum to Diagnose Maternal Dubin–Johnson Syndrome

Nimbkar, Aditya R; Panchbudhe, Shruti A; Deshmukh, Prasad; Pathade, Sumedha S

doi:10.5005/jp-journals-10006-2135

Cited by 2 publications

(2 citation statements)

References 2 publications

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“…A 19-year-old primigravida, referred to our hospital at 34 weeks of gestation, 4 with icterus since childhood, not evaluated ever before due to lack of any other distressing symptoms. The patient gave no history of nausea or fever, altered urine or stool color, premonitory symptoms or history of blood transfusions, inadvertent needle stick injury, or illicit drug consumption.…”

Section: Case 5: Dubin-johnson Syndromementioning

confidence: 99%

“A Tale of ‘AR’: A Rare All-round Review of Obstetric Autosomal Recessive Disorders”

Nimbkar,

Panchbudhe,

Pathade

et al. 2023

Journal of South Asian Federation of Obstetrics and Gynaecology

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Aim:The aim of this study was to understand the obstetric management of autosomal recessive (AR) disorders. Background: Pregnancy is fickle in nature. While it can put a veil on a few diseases and cause their remissions, it can as well unmask several other disorders, making itself a window for diagnosis. Not only does it help salvage the mother from further complications of such disorders but also provides the obstetricians an opportunity to know whether her future progeny, nurturing within her currently, shall be affected by those disorders. Case description: Hereby, we discuss six cases of rare disorders of autosomal recessive origin in our case series that can possibly cause profound morbidity to both the fetus and the mother. Conclusion: While not encountered routinely, a knowledge of these goes a long way in securing the loose ends of the finer aspects of maternal and fetal outcomes in maternal autosomal recessive disorders. Clinical significance: Not only do these disorders cause poor outcomes on their own, but the drugs used to maintain their remissions are also often teratogenic and require reconsideration with astute preconceptional counseling. In lieu of the paucity of literature on this subject, this case series will be an invaluable addition to the obstetric management of autosomal recessive disorders.

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Section: Case 5: Dubin-johnson Syndromementioning

confidence: 99%

“A Tale of ‘AR’: A Rare All-round Review of Obstetric Autosomal Recessive Disorders”

Nimbkar,

Panchbudhe,

Pathade

et al. 2023

Journal of South Asian Federation of Obstetrics and Gynaecology

Self Cite

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“…Clinically, while DJS often reveals itself through mild jaundice from infancy or early childhood, the clinical manifestations and implications in newborns warrant deeper exploration. [8,9] Early and precise diagnosis not only streamlines clinical management but also avoids potential complications arising from misdiagnosis with other hepatic conditions. [10,11] This study presents a neonatal clinical perspective of the disease.…”

Section: Introductionmentioning

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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The Icteric Riddle: A Diagnostic Conundrum to Diagnose Maternal Dubin–Johnson Syndrome

Cited by 2 publications

References 2 publications

“A Tale of ‘AR’: A Rare All-round Review of Obstetric Autosomal Recessive Disorders”

“A Tale of ‘AR’: A Rare All-round Review of Obstetric Autosomal Recessive Disorders”

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

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