Pregnancy with Dubin Johnson Syndrome –A case report

Bangal, Vidyadhar B; Denita, Fernandes; Chalasani, Shravani; Gupta, Kashvi; Singh, Pushpanjali

doi:10.7439/ijbar.v5i11.937

Cited by 1 publication

(2 citation statements)

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“…Patients are rarely diagnosed during the neonatal period [ 8 ]. Patients usually present with recurrent episodes of jaundice precipitated by infection, pregnancy, oral contraceptives or drugs [ 6 ] and have high percentage of DBIL/TBIL. Because of resource limitation, DJS and ICP cases remain undiscovered or not fully investigated and its prevalence in Sri Lanka is therefore unknown.…”

Section: Discussionmentioning

confidence: 99%

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Dubin–Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report

et al. 2017

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BackgroundDubin–Johnson syndrome and intrahepatic cholestasis of pregnancy are rare chronic liver disorders. Dubin–Johnson syndrome may manifest as conjugated hyperbilirubinemia, darkly pigmented liver, presence of abnormal pigment in the parenchyma of hepatocytes and abnormal distribution of the coproporphyrin isomers I and III in the urine. Intrahepatic cholestatic jaundice of pregnancy presents as pruritus, abnormal liver biochemistry and increased serum bile acids.Case presentationA Sri Lankan girl presented with recurrent episodes of jaundice. She had conjugated hyperbilirubinaemia with diffuse, coarse brown pigments in the hepatocytes. Urine coproporphyrin examination suggested Dubin–Johnson syndrome. Genetic studies confirmed missense homozygous variant p.Trp709Arg in the ATP-binding cassette sub-family C member 2 gene ABCC2 that encodes the Multidrug resistance-associated protein 2 that causes Dubin–Johnson syndrome. The gene study of the mother revealed the same missense variant in ABCC2/MRP2 but with a heterozygous status, and in addition a homozygous missense variant p.Val444Ala in the ATP-binding cassette, sub-family B member 11 gene ABCB11 that encodes the bile salt export pump.ConclusionDubin–Johnson syndrome should be considered when the common causes for conjugated hyperbilirubinaemia have been excluded, and patient has an increased percentage of direct bilirubin relative to total bilirubin concentration. Its early diagnosis prevents repeated hospital admissions and investigations. Knowledge of a well known homozygous variant in ABCB11 gene could help in the management of pregnancy.

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Section: Discussionmentioning

confidence: 99%

“…2 ). It is considered p.Trp709Arg is a harmful and disease causing variant, located in the intracytoplasmic loop 6 (IC6) of MRP2 protein, within Walker A motif of the nucleotide-binding domain 1 (NBD1) [ 6 ]. Similarly, p.Val444Ala variant gives susceptibility to hormonal cholestasis or ICP [ 7 ].…”

Section: Case Presentationmentioning

confidence: 99%