Overview
Dubin-Johnson Syndrome, also known as chronic idiopathic jaundice, is a hereditary non-hemolytic jaundice with elevated direct bilirubin type I. It was first reported in 1954 by Dubin et al. Clinical manifestations of Dubin-Johnson Syndrome are characterized by mild, chronic, intermittent hyperbilirubinemia Dubin-Johnson syndrome is characterized by mild, chronic, intermittent hyperbilirubinemia. It is an autosomal recessive disease with multiple cases in the family; however, some patients do not have a family history of the disease. It is common in adolescents or young children, and cases have been reported worldwide.
Causes
The disease is caused by a defect in the gene (ABCC2/MRP2 superfamily) for the multi-specific organic anion transporter protein (cMOAT) on capillary monotubes.
Symptoms
1. Chronic or intermittent xanthosis, which may appear or deepen as a result of pregnancy, surgery, strong physical labor, alcohol consumption, or infection.
2. Mostly occurs in adolescents, often with family history.
3. Some patients have pain in the liver area, about half of them have large liver with tenderness.
Examination
1. Blood biochemical tests show that serum total bilirubin and conjugated bilirubin are elevated, but aminotransferase activity, prothrombin time, and serum albumin and globulin are within the normal range. Alkaline phosphatase is usually in the normal range, fecal cholagens excretion is normal, urinary cholagens excretion is increased, bilirubin is positive, and the sodium sulfobromophthalein test is abnormal.
2. The gallbladder is not visualized after oral administration of contrast media, but the 9mTcHIDA excretion test shows normal liver, bile ducts and gallbladder.
Diagnosis
Diagnosis depends on liver puncture biopsy, there are brown or greenish-brown pigmentation of different sizes on the side of capillary bile ducts in the hepatocytes, which is most prominent in the center of the lobules.Schmorl’s reaction shows blue-black color.
Treatment
The syndrome does not require any treatment and has a good prognosis.