Identification of a variant in NLRP3 gene in a patient with Muckle-Wells syndrome: a case report and review of literature

Summary of the Case Report

• A case of Muckle-Wells Syndrome (MWS) was reported in a patient from a family with a history of autoinflammatory diseases.
• The patient presented with recurrent episodes of fever, rash, and arthralgia.
• Genetic analysis revealed a novel variant in the NLRP3 gene.
• The variant was not found in any of the databases, suggesting it is a novel mutation.
• The patient was treated with anakinra, which resulted in a significant improvement in symptoms.
• This case report highlights the importance of genetic testing in the diagnosis of MWS.

Review of the Literature

Muckle-Wells Syndrome (MWS) is an autosomal dominant autoinflammatory disorder caused by mutations in the NLRP3 gene. It is characterized by recurrent episodes of fever, rash, and arthralgia. The diagnosis of MWS is based on clinical criteria and genetic testing. In this case report, we present a patient from a family with a history of autoinflammatory diseases who was diagnosed with MWS based on genetic testing.

The patient presented with recurrent episodes of fever, rash, and arthralgia. Genetic analysis revealed a novel variant in the NLRP3 gene. The variant was not found in any of the databases, suggesting it is a novel mutation. The patient was treated with anakinra, which resulted in a significant improvement in symptoms.

This case report highlights the importance of genetic testing in the diagnosis of MWS. It also emphasizes the need for further research to identify novel variants in the NLRP3 gene and to understand the pathogenesis of MWS. In addition, it highlights the importance of early diagnosis and treatment of MWS to prevent long-term complications.

Conclusion

This case report describes the identification of a novel variant in the NLRP3 gene in a patient with Muckle-Wells Syndrome. The patient was successfully treated with anakinra, which resulted in a significant improvement in symptoms. This case report highlights the importance of genetic testing in the diagnosis of MWS and emphasizes the need for further research to identify novel variants in the NLRP3 gene and to understand the pathogenesis of MWS.

source of this article

published: 2023;
Identification of a variant in NLRP3 gene in a patient with Muckle-Wells syndrome: a case report and review of literature

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