Abstract
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.
Highlights
Dubin–Johnson syndrome and intrahepatic cholestasis of pregnancy are rare chronic liver disorders
Knowledge of a well known homozygous variant in ATP-binding cassette (ABCB11) gene could help in the management of pregnancy
Genetic studies revealed the mother to be heterozygous for the ATP-binding cassette (ABCC2)/Multidrug Resistance-associated Protein 2 (MRP2) gene, due to missense mutation variant p.Trp709Arg
Summary
In cholestatic hepatobiliary disorders early establishment of diagnosis is important to avoid unnecessary evaluations and prescribing of medication. More importantly and without prejudice, in mutational disorders, such a centralised facility would provide a highly persuasive tool to convince patients not to waste precious resources in seeking answers and cures from alternative forms of medicine. Provision of such a service would be a powerful instrument that is sure to add to the wealth of medical knowledge of the region. EJ supervised all the investigations and finalised the results MSD analysed urine coproporphyrin and isomer levels He arranged genetic studies and participated in writing the manuscript.
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