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It is usually diagnosed in early infancy. It appears to be associated with clotting factor VII in this population. Dubin johnson syndrome has a defect in the multispecific anion transporter gene. Likely a loss of function mutation, since the mutation affects the cytoplasmic domain. Dubin johnson syndrome is a very rare genetic disorder. In order to inherit the condition, a child must get a copy of the defective gene from both parents. Although most patients are asymptomatic, some patients complain of nonspecific right upper quadrant pain, which has been attributed to the anxiety associated with prolonged diagnostic testing.Dubin johnson syndrome occurs in both sexes but has a trend to predominate in males. In women with DJS, pregnancy or oral contraceptive consumption can induce explicit jaundice. Mild jaundice, which may not seem until puberty or maturity, is the alone symptom of dubin johnson syndrome. There is plenty of canalicular multi-drug resistant protein which causes bilirubin transfer to bile canaliculi. An isoform of this protein is localized to the lateral hepatocyte membrane, allowing transport of glucuronide and glutathione conjugates back into the blood. People with dubin johnson syndrome have life-long low-grade jaundice that may be aggravated by alcohol, pregnancy, oral contraceptive use, infection, and other environmental factors that affect the liver. It is rarely detected before puberty, although neonatal cases have been reported. Onset during infancy is rare, onset occurs most often in early adulthood.The prognosis for this circumstance is really constructive. In general, procedures are not needed to affirm the diagnosis of dubin johnson syndrome. If a patient is suspected of having dubin johnson syndrome, diagnosis can be confirmed by the examination for urinary coproporphyrins described above. Genetic counseling may be helpful for people who wish to have children and have a family history of dubin johnson syndrome. Dubin johnson syndrome generally does not shorten the patient's life span. Treatment of this syndrome is usually unnecessary. Most patients are asymptomatic and have normal life spans. Some neonates will present with cholestasis. Oral contraceptive and pregnancy may lead to overt jaundice and icterus. This treatment is no longer recommended. Patients should be warned that pregnancy, oral contraceptive use, and intercurrent illness can exacerbate the icterus. Article Tags: Dubin Johnson Syndrome, Dubin Johnson, Johnson Syndrome, Oral Contraceptive
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