Choroba Eb: An In-Depth Guide to the Rare Genetic Disorder
What is Choroba Eb?
Choroba Eb is a rare genetic disorder characterized by the absence of ATP7A, a copper-transporting protein. This leads to excessive copper accumulation in the liver and other organs, causing severe health issues.
Symptoms and Diagnosis
- Jaundice
- Fatigue
- Liver damage
Diagnosis involves blood and liver biopsies.
Causes and Inheritance
Choroba Eb is caused by mutations in the ATP7A gene, which encodes the copper-transporting protein.
It is inherited in an autosomal recessive pattern, meaning both parents must carry the mutated gene for the child to inherit the condition.
Treatment and Management
Liver Transplantation
Liver transplantation is the primary treatment for Choroba Eb, as it removes the damaged organ and provides a new one with normal copper metabolism.
Copper-Chelation Therapy
Medications called copper chelators can bind to copper and promote its excretion. This helps reduce copper levels and improve symptoms.
Zinc Supplementation
Zinc supplementation can help reduce copper absorption and promote copper excretion.
Prognosis and Complications
With proper treatment, individuals with Choroba Eb can live long and fulfilling lives.
Complications
- Liver failure
- Neurological problems
- Growth retardation
Research and Future Developments
Ongoing research focuses on gene therapy and enzyme replacement therapy to improve treatment options for Choroba Eb.
References
Choroba Eb
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