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Dubin-johnson Syndrome

Disease Details

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Description: Dubin-Johnson syndrome is a rare, genetic liver disorder characterized by chronic, mild jaundice due to the impaired excretion of conjugated bilirubin.
Type: Dubin-Johnson syndrome is a genetic disorder. It is transmitted in an autosomal recessive manner.
Signs And Symptoms: Around 80 to 99% of people with Dubin–Johnson syndrome have jaundice, abnormal urinary color, biliary tract abnormality, and conjugated bilirubinemia. Around 30 to 79% of people with the disorder have abnormality of the gastric mucosa. Other rare symptoms include fever and fatigue.
Prognosis: Prognosis is good, and treatment of this syndrome is usually unnecessary. Most patients are asymptomatic and have normal lifespans. Some neonates present with cholestasis. Hormonal contraceptives and pregnancy may lead to overt jaundice and icterus (yellowing of the eyes and skin).
Onset: Dubin-Johnson syndrome typically presents in late adolescence or early adulthood, although it can sometimes be detected in infancy or childhood. The disease is characterized by chronic or intermittent jaundice due to a defect in hepatic bilirubin excretion. However, it usually does not cause significant health problems or affect life expectancy.
Prevalence: Dubin-Johnson Syndrome is a rare inherited liver disorder, but specific prevalence rates are not well-documented. It has been estimated to affect less than 1 in 100,000 individuals.
Epidemiology: Dubin-Johnson syndrome is a rare autosomal recessive disorder. It affects both males and females equally and is seen in various ethnic groups. However, it has a higher prevalence in certain populations, such as Iranian Jews, where the incidence can be as high as 1 in 1,300. Overall, its global prevalence is low. There is no specific data regarding its distribution on a larger scale or the number of affected individuals worldwide (nan - not available).
Intractability: Dubin-Johnson syndrome is generally not considered intractable. It is a relatively benign, chronic liver disorder characterized by a mild to moderate increase in conjugated bilirubin. Although it is a lifelong condition, symptoms are often mild and do not typically require treatment. Management focuses on monitoring and avoiding potential liver stressors.
Disease Severity: Dubin-Johnson syndrome is generally considered a benign condition. It is a rare, inherited disorder that causes chronic jaundice due to impaired excretion of conjugated bilirubin. Despite the persistent jaundice, individuals with this condition usually have a normal life expectancy and do not experience serious health problems related to the syndrome itself. Regular monitoring and managing any associated symptoms are typically sufficient.
Healthcare Professionals: Disease Ontology ID - DOID:12308
Pathophysiology: The conjugated hyperbilirubinemia is a result of defective endogenous and exogenous transfer of anionic conjugates from hepatocytes into bile. Impaired biliary excretion of bilirubin glucuronides is due to a mutation in the canalicular multiple drug-resistance protein 2 (MRP2). A darkly pigmented liver is due to polymerized epinephrine metabolites, not bilirubin.
Dubin–Johnson syndrome is due to a defect in the multiple drug resistance protein 2 gene (ABCC2), located on chromosome 10. It is an autosomal recessive disease and is likely due to a loss of function mutation, since the mutation affects the cytoplasmic/binding domain.
Carrier Status: Dubin-Johnson syndrome is an autosomal recessive disorder. Carrier status means that an individual carries one copy of the mutated gene (heterozygous) but usually does not show symptoms of the disorder.
Mechanism: Dubin-Johnson syndrome is a rare, inherited disorder characterized by chronic jaundice.

Mechanism:
- The primary mechanism involves a defect in the hepatic excretion of conjugated bilirubin into the bile. This results in the accumulation of conjugated bilirubin in the liver and its subsequent leakage into the bloodstream, leading to jaundice.

Molecular Mechanisms:
- The syndrome is caused by mutations in the ABCC2 gene, which encodes the multidrug resistance-associated protein 2 (MRP2).
- MRP2 is responsible for transporting organic anions, such as bilirubin glucuronides, from the liver cells into the bile canaliculi.
- Mutations in ABCC2 impair the function or expression of MRP2, disrupting bilirubin excretion and causing its buildup in hepatocytes.

Understanding these mechanisms provides insight into the pathophysiology of Dubin-Johnson syndrome and the resulting clinical manifestations.
Treatment: Dubin–Johnson syndrome is a benign condition and no treatment is required. However, it is important to recognize the condition so as not to confuse it with other hepatobiliary disorders associated with conjugated hyperbilirubinemia that require treatment or have a different prognosis.
Compassionate Use Treatment: Dubin-Johnson syndrome is a rare, benign genetic liver disorder characterized by chronic jaundice. It is typically managed through observation and supportive care, as it often does not lead to serious health issues. There is no established compassionate use treatment specifically for this condition due to its generally mild nature.

As for off-label or experimental treatments, there currently aren't any prominent or widely studied interventions specifically targeting Dubin-Johnson syndrome. Management primarily focuses on monitoring liver function and addressing symptoms if they arise. In most cases, patients do not require specific medical therapy and can lead normal lives with routine medical care.
Lifestyle Recommendations: While Dubin-Johnson syndrome is a relatively benign genetic disorder characterized by chronic jaundice, patients can typically lead normal lives without specific lifestyle changes. However, some general recommendations include:

1. **Regular Monitoring:** Routine check-ups with a healthcare provider to monitor liver function and bilirubin levels.
2. **Healthy Diet:** A balanced diet rich in fruits, vegetables, and whole grains to support overall liver health.
3. **Hydration:** Adequate fluid intake to help maintain proper bodily functions.
4. **Avoid Alcohol:** Limiting or avoiding alcohol consumption to reduce the risk of liver damage.
5. **Medication Caution:** Consult with a healthcare provider before taking new medications to avoid those that may stress the liver.

Despite the chronic jaundice, individuals with Dubin-Johnson syndrome usually have a good prognosis and can maintain a normal quality of life.
Medication: There is no specific medication required for Dubin-Johnson syndrome, as it is a benign, usually asymptomatic, hereditary condition characterized by chronic, mild jaundice. Management typically focuses on monitoring liver function and avoiding potential liver toxins, including alcohol and certain medications that could exacerbate liver stress.
Repurposable Drugs: Dubin-Johnson Syndrome is a rare genetic liver disorder characterized by chronic jaundice due to impaired excretion of conjugated bilirubin. There is no specific treatment required for Dubin-Johnson Syndrome as it typically does not lead to severe liver damage or reduced life expectancy. Symptomatic relief for associated conditions may be managed, but there are no currently approved drugs specifically repurposed for this syndrome. Management is primarily observational and supportive.
Metabolites: Dubin-Johnson syndrome is a rare, inherited disorder characterized by chronic jaundice. It is associated with an increase in conjugated bilirubin in the bloodstream. The primary metabolite involved is conjugated bilirubin, which accumulates due to a defect in the hepatocellular transport of this substance from the liver cells into the bile ducts. Other liver function tests and liver enzymes are usually normal in this condition.
Nutraceuticals: Dubin-Johnson syndrome is a rare genetic liver disorder characterized by chronic jaundice. It results from a mutation in the gene coding for the MRP2 (ABCC2) protein, which impairs bilirubin excretion.

As Dubin-Johnson syndrome is primarily a genetic disorder with no significant symptoms other than jaundice, there are no specific nutraceuticals proven to treat or manage this condition. Management usually focuses on monitoring liver function and avoiding potential liver toxins. Always consult a healthcare professional for personalized advice.
Peptides: Dubin-Johnson syndrome is a rare genetic disorder that affects the liver's ability to process bilirubin. It is characterized by chronic conjugated hyperbilirubinemia without significant liver dysfunction. As of now, there is no known involvement or direct treatment with peptides or nanotechnology (nan) specifically for this condition. Treatment is generally supportive and focuses on managing symptoms.