دورية أكاديمية
Treating TRAPS Syndrome with a Previously Undescribed TNF α Gene Receptor Mutation Successfully with Canakinumab
| العنوان: | Treating TRAPS Syndrome with a Previously Undescribed TNF α Gene Receptor Mutation Successfully with Canakinumab |
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| المؤلفون: | T. V. Sleptsova, E. I. Alexeeva, K. V. Savostyanov, A. A. Pushkov, T. M. Bzarova, K. B. Isaeva, R. V. Denisova |
| المصدر: | Pediatričeskaâ Farmakologiâ, Vol 13, Iss 4, Pp 399-403 (2016) |
| بيانات النشر: | Paediatrician Publishers, LLC |
| سنة النشر: | 2016 |
| المجموعة: | Directory of Open Access Journals: DOAJ Articles |
| مصطلحات موضوعية: | children, autoinflammatory syndromes, molecular genetic diagnosis, traps, tnfrsf1a, new mutation, canakinumab, Therapeutics. Pharmacology, RM1-950 |
| الوصف: | The article presents an observation of one of the most common autoinflammatory syndromes — TRAPS (periodic syndrome associated with a mutation in the TNF α receptor gene). During a molecular-genetic examination of a 9-year-old child, a c.337_339del deletion in the heterozygous state of the TNFRSF1A gene exon 04, leading to a p.Glu113del amino acid deletion, was found. This mutation has not been described previously in TRAPS patients, and according to computer analysis (Alamut Visual) the issue is pathogenic. This observation indicates the presence of families with TRAPS in the Russian population, who can have «atypical» TNFRSF1A gene mutations. A successful use of monoclonal antibodies to interleukin 1 — canakinumab — in the patient is described. As a result, fever and abdominal syndromes have completely stopped, while knee joints pain decreased a day later. After a week of treatment, the child’s disease activity laboratory indices returned to normal (ESR, C-reactive protein). No exacerbations were fixed over the next 32 weeks. No adverse effects were registered during canakinumab therapy. Thus, canakinumab has demonstrated a high level of effectiveness and safety for the patient suffering from a periodic syndrome associated with a mutation in the TNF α gene receptor. This indicates therapeutic use prospects for the interleukin 1 β blocker in TRAPS syndrome patients. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English Russian |
| تدمد: | 1727-5776 2500-3089 |
| العلاقة: | https://www.pedpharma.ru/jour/article/view/1449Test; https://doaj.org/toc/1727-5776Test; https://doaj.org/toc/2500-3089Test; https://doaj.org/article/63fb2ce544ec452dbf94752420e34d2aTest |
| DOI: | 10.15690/pf.v13i4.1615 |
| الإتاحة: | https://doi.org/10.15690/pf.v13i4.1615Test https://doaj.org/article/63fb2ce544ec452dbf94752420e34d2aTest |
| رقم الانضمام: | edsbas.9165CC00 |
| قاعدة البيانات: | BASE |
| تدمد: | 17275776 25003089 |
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| DOI: | 10.15690/pf.v13i4.1615 |