A family case of a rare autoinflammatory disease associated with mutations in the NLRP3 and TNFRSF1A genes in the practice of a rheumatologist
https://doi.org/10.20538/1682-0363-2023-2-170-175
Abstract
The article presents a clinical case of a rare autoinflammatory disease – a family case of Muckle – Wells syndrome. The diversity of clinical manifestations and the impossibility of confirming the diagnosis without a genetic study by DNA sequencing determine the complexity of and delay in the diagnosis. The development of severe complications and, as a consequence, a fatal outcome necessitates early diagnosis. The described clinical case demonstrates the importance of DNA sequencing for the timely diagnosis of the disease, the features of the disease course, and the familial nature of the disease. The diagnosis of Mackle – Wells syndrome in young family members before the development of severe complications will allow to start adequate and timely treatment and prevent the development of amyloidosis.
Supporting agencies: The work was carried out within the framework of the state task of Research Institute of Clinical and Experimental Lymрhology – Branch of Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences (topic No. FWNR-2023-0009).
About the Authors
Yu. D. Kurochkina
Research Institute of Clinical and Experimental Lymрhology – branch of the Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences
Russian Federation
Russian Federation
4, Timakova Str., Novosibirsk, 630060
M. A. Korolev
Research Institute of Clinical and Experimental Lymрhology – branch of the Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences
Russian Federation
Russian Federation
4, Timakova Str., Novosibirsk, 630060
E. A. Letyagina
Research Institute of Clinical and Experimental Lymрhology – branch of the Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences
Russian Federation
Russian Federation
4, Timakova Str., Novosibirsk, 630060
V. S. Fishman
Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Akademika Lavrentyeva Аv., Novosibirsk, 630090
M. M. Gridina
Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Akademika Lavrentyeva Аv., Novosibirsk, 630090
E. S. Valeeva
Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Akademika Lavrentyeva Аv., Novosibirsk, 630090
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Review
For citations:
Kurochkina Yu.D., Korolev M.A., Letyagina E.A., Fishman V.S., Gridina M.M., Valeeva E.S. A family case of a rare autoinflammatory disease associated with mutations in the NLRP3 and TNFRSF1A genes in the practice of a rheumatologist. Bulletin of Siberian Medicine. 2023;22(2):170-175. https://doi.org/10.20538/1682-0363-2023-2-170-175
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