Dubin Johnson syndrome (Cause Hyperbilirubinemia) ; Causes, Symptoms, Diagnosis, Treatment скачать в хорошем качестве

Dubin Johnson syndrome (Cause Hyperbilirubinemia) ; Causes, Symptoms, Diagnosis, Treatment

Dubin-Johnson syndrome is a rare genetic disorder that affects the liver's ability to properly process bilirubin. Here are some key points: Symptoms Jaundice: Yellowing of the skin and whites of the eyes due to elevated levels of conjugated bilirubin. Dark Urine: Urine may appear darker than usual. Asymptomatic: Many individuals with this condition are asymptomatic and may not experience any symptoms. Causes Genetic Mutation: Caused by mutations in the ABCC2 gene, which encodes the canalicular multiple drug resistance protein 2 (MRP2). Autosomal Recessive Inheritance: The condition is inherited in an autosomal recessive manner, meaning both copies of the gene in each cell must have mutations. Diagnosis Blood Tests: Elevated levels of conjugated bilirubin in the blood. Liver Biopsy: May show a darkly pigmented liver due to the accumulation of a pigment similar to melanin. Genetic Testing: Can confirm the presence of mutations in the ABCC2 gene. Treatment No Specific Treatment: Generally, no specific treatment is required as the condition is benign. Monitoring: Regular monitoring of bilirubin levels and liver function #DubinJohnsonsyndrome