A familial case of Muckle-Wells syndrome in a Russian population: The first successes of therapy with the interleukin 1 inhibitor canakinumab

Салугина, С. О.; Федоров, Е. С.; Захарова, Е. Ю.; Evsikova, Margarita

doi:10.14412/1996-7012-2015-1-66-71

Cited by 1 publication

(1 citation statement)

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“…Пациентка М., 31 П е р е д о в а я В нашей группе 22 пациентам (из них 7 -взрослые) назначен канакинумаб, который они продолжают получать в течение 1-5 лет с отчетливой положительной динамикой у большинства из них. Примером длительного эффективного применения ингибитора ИЛ1 канакинумаба может служить история болезни двух членов одной семьи (матери и дочери), страдающих CAPS (MWS) [39]. Под нашим наблюдением находятся две пациентки, мать и дочь, 1973 и 1996 г.р., которым в 2013 г.…”

Section: лечение моногенных ау товоспалительных заболеванийunclassified

Monogenic auto-inflammatory diseases in children and adults: what a rheumatologist should know

Салугина¹,

Федоров²,

Agafonova³

2019

Naučno-praktičeskaâ revmatologiâ

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The article presents information on the current state of the problem of autoinflammatory diseases (AID) in rheumatology, reflects the clinical and demographic, laboratory and molecular genetic characteristics of the main monogenic AID (mAID), the most common in real clinical practice. Approaches to the diagnosis and differential diagnosis of these conditions are presented. The variants of classification and diagnostic criteria of the most studied mAID are discussed. The principles of treatment with an emphasis on the use of targeted therapy with interleukin 1 (IL1) inhibitors are shown. The clinical examples demonstrate the variants of late diagnosis of the mAID in adult patients with the disease onset in childhood. Different variants of multi-organ damage are considered. Effectiveness of therapy with IL1β inhibitor kanakinumab is demonstrated. Even in such cases it provided the possibility of significant symptoms regression and restoration of a satisfactory quality of life.

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Section: лечение моногенных ау товоспалительных заболеванийunclassified