A Novel Mutation in the ATP7B Gene: A Rare Manifestation of Wilson Disease With Liver Failure

Summary of the Article

• This case report describes a rare manifestation of Wilson disease with liver failure in a patient with a novel mutation in the ATP7B gene.
• The patient was a 16-year-old male with a history of jaundice, abdominal pain, and fatigue.
• Laboratory tests revealed elevated liver enzymes, low serum copper, and low ceruloplasmin levels.
• Genetic testing revealed a novel mutation in the ATP7B gene, which is associated with Wilson disease.
• The patient was treated with zinc and copper chelation therapy, which resulted in a marked improvement in his symptoms.
• This case highlights the importance of genetic testing in the diagnosis of Wilson disease, as well as the need for early diagnosis and treatment.

A Rare Manifestation of Wilson Disease With Liver Failure

Wilson disease is an inherited disorder caused by a mutation in the ATP7B gene, which is responsible for the production of copper-transporting proteins. This mutation leads to an accumulation of copper in the body, which can cause a variety of symptoms, including jaundice, abdominal pain, and fatigue. In this case report, we describe a rare manifestation of Wilson disease with liver failure in a 16-year-old male patient with a novel mutation in the ATP7B gene.

The patient presented with jaundice, abdominal pain, and fatigue. Laboratory tests revealed elevated liver enzymes, low serum copper, and low ceruloplasmin levels. Genetic testing revealed a novel mutation in the ATP7B gene, which is associated with Wilson disease. The patient was treated with zinc and copper chelation therapy, which resulted in a marked improvement in his symptoms.

This case highlights the importance of genetic testing in the diagnosis of Wilson disease, as well as the need for early diagnosis and treatment. Early diagnosis and treatment can help prevent the progression of the disease and its associated complications. Furthermore, this case also highlights the importance of considering rare mutations in the ATP7B gene when diagnosing Wilson disease.

Conclusion

This case report describes a rare manifestation of Wilson disease with liver failure in a patient with a novel mutation in the ATP7B gene. The patient was treated with zinc and copper chelation therapy, which resulted in a marked improvement in his symptoms. This case highlights the importance of genetic testing in the diagnosis of Wilson disease, as well as the need for early diagnosis and treatment. Early diagnosis and treatment can help prevent the progression of the disease and its associated complications. Furthermore, this case also highlights the importance of considering rare mutations in the ATP7B gene when diagnosing Wilson disease.

source of this article

published: 2023 Feb;
A Novel Mutation in the ATP7B Gene: A Rare Manifestation of Wilson Disease With Liver Failure

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