About dubin johnson syndrome

What is dubin johnson syndrome?

Dubin Johnson Syndrome is a rare genetic liver disorder that tends to affect people of Middle Eastern Jewish heritage disproportionately to other groups. It appears to be associated with clotting factor VII in this population. Symptoms may include a yellowish color to the skin (jaundice), and a liver that is sometimes enlarged and tender.



What are the symptoms for dubin johnson syndrome?

Approximately 80% to 99% of people with DJS have intermittent jaundice caused by excess bilirubin (bile pigment) that cannot be excreted normally. It builds up in the liver cells and then goes into the blood and is deposited in the eyes and skin. The same pigment can cause an abnormal urine color. The liver functions normally aside from the loss of an important transporter protein needed to move bilirubin out of the liver. Other less common symptoms include Fatigue and Fever. Rarely, bilirubin levels can become so high that organ damage is possible.



What are the causes for dubin johnson syndrome?

DJS is caused by changes (mutations) in the ABCC2 gene. This gene codes for a protein called multidrug resistance protein 2 (MRP2). This protein moves substances out of the cell and is found mainly in the liver but is also present in the kidneys, the intestine, and the placenta. The normal functioning protein works to secrete bilirubin into the bile, which is then transported to the gallbladder where it is stored. When the gall bladder is contracted during digestion, the bile is secreted into the intestine and then passes into the feces. Several different mutations have been identified that alter the function of the carrier protein. This process requires energy in the form of ATP and a common site of mutation is the part of the carrier that coordinates this aspect of the process.

Pregnancy or use of oral contraceptives may cause the disease to become apparent in women when no symptoms appeared previously.

DJS is inherited in an autosomal recessive pattern. Recessive genetic disorders occur when an individual inherits a non-working gene from each parent. If an individual receives one working gene and one non-working gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the non-working gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. The chance for a child to receive working genes from both parents is 25%. The risk is the same for males and females.



What are the treatments for dubin johnson syndrome?

Treatment of DJS is symptomatic and supportive. Many patients never require any treatment even though they have recurrent mild jaundice. However, metabolism of certain drugs may be affected in patients with DJS as many pharmaceutical products are metabolized in the liver. Therefore, a physician should carefully supervise medications.

Genetic counseling is recommended for patients and their families.



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