Clinical and Genetic Characteristics, Target Therapy Results in Children with Traps Syndrome (on Clinical Surveillance Data)
The complexity of diagnosing and predicting the course of TNF-receptor-associated periodic syndrome TRAPS determines the importance of studying the dependence of clinical manifestations on the variant of genetic mutation and the presence of modifier genes. We observed 5 children with an identified d...
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| Format: | Article |
| Language: | Russian |
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IMA PRESS LLC
2021-09-01
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| Series: | Научно-практическая ревматология |
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| Online Access: | https://rsp.mediar-press.net/rsp/article/view/3064 |
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| author | E. V. Antsiferova T. V. Cherkashina N. G. Wolf I. Yu. Naumenko E. A. Anikina N. G. Kiseleva N. Yu. Makarevskaya T. E. Taranushenko L. N. Antsiferova E. Yu. Emelyanchik |
| author_facet | E. V. Antsiferova T. V. Cherkashina N. G. Wolf I. Yu. Naumenko E. A. Anikina N. G. Kiseleva N. Yu. Makarevskaya T. E. Taranushenko L. N. Antsiferova E. Yu. Emelyanchik |
| author_sort | E. V. Antsiferova |
| collection | DOAJ |
| description | The complexity of diagnosing and predicting the course of TNF-receptor-associated periodic syndrome TRAPS determines the importance of studying the dependence of clinical manifestations on the variant of genetic mutation and the presence of modifier genes. We observed 5 children with an identified diagnosis of TRAPS. It was established that the disease onset in most cases is defined as a juvenile arthritis with systemic onset. Genetic variants with the replacement of cysteine residues are associated with an early debut and an aggressive course, the c.362G> A p.R121Q mutation is associated with an erosive damage to the spine. The case of a favorable course of TRAPS in siblings with a newly detected mutation is described. The development of urgent complications of TRAPS was revealed when basic therapy with canakinumab was canceled. |
| format | Article |
| id | doaj-art-f73b9d7d814444488c472e44f86c76c0 |
| institution | Matheson Library |
| issn | 1995-4484 1995-4492 |
| language | Russian |
| publishDate | 2021-09-01 |
| publisher | IMA PRESS LLC |
| record_format | Article |
| series | Научно-практическая ревматология |
| spelling | doaj-art-f73b9d7d814444488c472e44f86c76c02025-08-04T17:04:01ZrusIMA PRESS LLCНаучно-практическая ревматология1995-44841995-44922021-09-0159410.47360/1995-4484-2021-455-4622737Clinical and Genetic Characteristics, Target Therapy Results in Children with Traps Syndrome (on Clinical Surveillance Data)E. V. Antsiferova0T. V. Cherkashina1N. G. Wolf2I. Yu. Naumenko3E. A. Anikina4N. G. Kiseleva5N. Yu. Makarevskaya6T. E. Taranushenko7L. N. Antsiferova8E. Yu. Emelyanchik9Krasnoyarsk State Medical University named after professor Voino-Yasenetsky; Krasnoyarsk Regional Clinical Center for Maternity and Childhood ProtectionKrasnoyarsk Regional Clinical Center for Maternity and Childhood ProtectionKrasnoyarsk Regional Clinical Center for Maternity and Childhood ProtectionKrasnoyarsk Regional Clinical Center for Maternity and Childhood ProtectionKrasnoyarsk Regional Clinical Center for Maternity and Childhood ProtectionKrasnoyarsk State Medical University named after professor Voino-Yasenetsky; Krasnoyarsk Regional Clinical Center for Maternity and Childhood ProtectionKrasnoyarsk Regional Clinical Center for Maternity and Childhood ProtectionKrasnoyarsk State Medical University named after professor Voino-YasenetskyKrasnoyarsk Regional Clinical Center for Maternity and Childhood ProtectionKrasnoyarsk State Medical University named after professor Voino-YasenetskyThe complexity of diagnosing and predicting the course of TNF-receptor-associated periodic syndrome TRAPS determines the importance of studying the dependence of clinical manifestations on the variant of genetic mutation and the presence of modifier genes. We observed 5 children with an identified diagnosis of TRAPS. It was established that the disease onset in most cases is defined as a juvenile arthritis with systemic onset. Genetic variants with the replacement of cysteine residues are associated with an early debut and an aggressive course, the c.362G> A p.R121Q mutation is associated with an erosive damage to the spine. The case of a favorable course of TRAPS in siblings with a newly detected mutation is described. The development of urgent complications of TRAPS was revealed when basic therapy with canakinumab was canceled.https://rsp.mediar-press.net/rsp/article/view/3064monogenic autoinflammation diseasestrapschildrenil-1canakinumab |
| spellingShingle | E. V. Antsiferova T. V. Cherkashina N. G. Wolf I. Yu. Naumenko E. A. Anikina N. G. Kiseleva N. Yu. Makarevskaya T. E. Taranushenko L. N. Antsiferova E. Yu. Emelyanchik Clinical and Genetic Characteristics, Target Therapy Results in Children with Traps Syndrome (on Clinical Surveillance Data) Научно-практическая ревматология monogenic autoinflammation diseases traps children il-1 canakinumab |
| title | Clinical and Genetic Characteristics, Target Therapy Results in Children with Traps Syndrome (on Clinical Surveillance Data) |
| title_full | Clinical and Genetic Characteristics, Target Therapy Results in Children with Traps Syndrome (on Clinical Surveillance Data) |
| title_fullStr | Clinical and Genetic Characteristics, Target Therapy Results in Children with Traps Syndrome (on Clinical Surveillance Data) |
| title_full_unstemmed | Clinical and Genetic Characteristics, Target Therapy Results in Children with Traps Syndrome (on Clinical Surveillance Data) |
| title_short | Clinical and Genetic Characteristics, Target Therapy Results in Children with Traps Syndrome (on Clinical Surveillance Data) |
| title_sort | clinical and genetic characteristics target therapy results in children with traps syndrome on clinical surveillance data |
| topic | monogenic autoinflammation diseases traps children il-1 canakinumab |
| url | https://rsp.mediar-press.net/rsp/article/view/3064 |
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