mrjСовременная ревматологияModern Rheumatology Journal1996-70122310-158XIMA-PRESS, LLC10.14412/1996-7012-2015-1-66-71mrj-601Research ArticleРЕВМАТИЧЕСКИЕ ЗАБОЛЕВАНИЯ ДЕТСКОГО ВОЗРАСТАСемейный случай синдрома Muckle–Wells в российской популяции: первые успех и терапии ингибитором интерлейкина 1 канакинумабомA familial case of Muckle-Wells syndrome in a Russian population: The first successes of therapy with the interleukin 1 inhibitor canakinumabСалугинаСветлана ОлеговнаSaluginaS. O.

115522, Москва, Каширское шоссе, 34А

34A, Kashirskoe Shosse, Moscow 115552

pafon1@yandex.ruФедоровЕ. С.FedorovE. S.

115522, Москва, Каширское шоссе, 34А

34A, Kashirskoe Shosse, Moscow 115552

ЗахароваЕ. Ю.ZakharovaE. Yu.

115478, Москва, ул. Москворечье, 1

1, Moskvorechye St., Moscow 115478

ЕвсиковаМ. Д.EvsikovaM. D.

115522, Москва, Каширское шоссе, 34А

34A, Kashirskoe Shosse, Moscow 115552

ФГБНУ НИИР им. В.А. НасоновойРоссияV.A. Nasonova Research Institute of RheumatologyRussian FederationМедико-генетический научный центрРоссияResearch Center of Medical GeneticsRussian Federation201524032015916671Copyright © Салугина С.О., Федоров Е.С., Захарова Е.Ю., Евсикова М.Д., 20152015Салугина С.О., Федоров Е.С., Захарова Е.Ю., Евсикова М.Д.Salugina S.O., Fedorov E.S., Zakharova E.Y., Evsikova M.D.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://mrj.ima-press.net/mrj/article/view/601

Синдром Muckle–Wells (MWS) – аутовоспалительное заболевание, относящееся к группе криопирин-ассоциированных периодических синдромов (Сryopyrin-Аssociated Periodic Syndrome – CAPS). MWS считается одним из промежуточных по степени тяжести среди CAPS и занимает место между самым тяжелым CAPS – хроническим младенческим нервно-кожно-артикулярным синдромом/младенческим мультисистемным воспалительным заболеванием (Chronic Infantile Onset Neurologic Cutneous Articular/Neonatal Onset Multisystem Inflammatory Disease – CINCA/NOMID) и наиболее легким – семейной холодовой крапивницей (Familial Cold A utoinflammatory Syndrome – FCAS). MWS, как и все криопиринопатии, обусловлен мутацией гена NLRP3 (CIAS1), тип наследования – аутосомно-доминантный. В зарубежной литературе описаны семейные случаи MWS, в России такие примеры единичны. Представленное клиническое наблюдение наглядно демонстрирует семейный, генетически подтвержденный, случай MWS у матери и дочери в российской популяции и показывает, как долго (иногда на протяжении десятка лет и более) может формироваться полный сиптомокомплекс заболевания. Отражены также результаты лечения у обеих пациенток ингибитором интерлейкина 1 канакинумабом. Показана высокая эффективность препарата в отношении клинических проявлений MWS, острофазовых маркеров, его хорошая переносимость.

 

Muckle-Wells syndrome (MWS) is an autoinflammatory disease belonging to a group of cryopyrin-associated periodic syndromes (CAPS). It is considered to be one of the intermediately severe conditions among CAPSs and to be intermediate between the severest syndrome – Chronic I nfantile Onset Neurologic Cutneous Articular/Neonatal Onset Multisystem Inflammatory Disease (CINCA/NOMID) and the mildest syndrome–Familial Cold Autoinflammatory Syndrome (FCAS). MWS, like all cryopyrinopathies, is caused by a mutation in the NLRP3 (CIAS1) gene; it shows an autosomal inheritance pattern. There are reports on familial MWS cases in the foreign literature; such examples are sporadic in Russia. The given clinical observation clearly demonstrates a genetically verified familial case of MWS in a mother and her daughter in a Russian population and shows how long (occasionally during tens of years or more) the complete complex of the disease may be formed. The results of treatment with the interleukin-1 inhibitor canakinumab in both patients are also given. The high good tolerability and high efficacy of the drug against the clinical manifestations of MWS and acute-phase markers are shown.

 

 

аутовоспалительные заболеваниякриопирин-ассоциированный периодический синдромсиндром Muckle–Wellsсемейный случайингибиторы интерлейкина 1канакинумаблечениеautoinflammatory diseasescryopyrin-associated periodic syndromeMuckle-Wells syndromefamilial caseinterleukin-1 inhibitorscanakinumabtreatmentReferencesКузьмина НН, Салугина СО, Федоров ЕС. Аутовоспалительные заболевания и синдромы у детей: учебно-методическое пособие. Москва: ИМА-ПРЕСС; 2012. 104 с. [Kuz'mina NN, Salugina SO, Fedorov ES. Autovospalitel'nye zabolevaniya i sindromy u detei: uchebno-metodicheskoe posobie [Autoinflammatory diseases and syndromes in children: educational-methodical manual]. Moscow: IMA-PRESS; 2012. 104 p.]Кузьмина НН, Салугина СО, Федоров ЕС. Аутовоспалительные заболевания и синдромы у детей: учебно-методическое пособие. Москва: ИМА-ПРЕСС; 2012. 104 с. [Kuz'mina NN, Salugina SO, Fedorov ES. Autovospalitel'nye zabolevaniya i sindromy u detei: uchebno-metodicheskoe posobie [Autoinflammatory diseases and syndromes in children: educational-methodical manual]. Moscow: IMA-PRESS; 2012. 104 p.]Hoffman HM, Mueller JL, Broide DH, et al. Mutation of a new gene encoding a putative pyrine-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndrome. Nat Genet. 2001 Nov;29(3):301–5.Hoffman HM, Mueller JL, Broide DH, et al. Mutation of a new gene encoding a putative pyrine-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndrome. Nat Genet. 2001 Nov;29(3):301–5.Neven B, Callebaut I, Prieure AM, et al. Molecular basis of the spectral expression of CIAS1 mutations assotiated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS and FCU. Blood. 2004 Apr 1;103(7):2809–15. Epub 2003 Nov 20.Neven B, Callebaut I, Prieure AM, et al. Molecular basis of the spectral expression of CIAS1 mutations assotiated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS and FCU. Blood. 2004 Apr 1;103(7):2809–15. Epub 2003 Nov 20.Cuisset L, Jeru I, Dumont B, et al., and the French CAPS study group. Mutation in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France. Ann Rheum Dis. 2011 Mar;70(3):495–9. doi: 10.1136/ard.2010.138420. Epub 2010 Nov 24.Cuisset L, Jeru I, Dumont B, et al., and the French CAPS study group. Mutation in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France. Ann Rheum Dis. 2011 Mar;70(3):495–9. doi: 10.1136/ard.2010.138420. Epub 2010 Nov 24.Barron K, Athreya B, Kastner D. Periodic fever syndromes and other inherited autoinflammatory diseases in: Textbook of pediatric rheumatology. Cassidy JT, et al., editors. 6th ed., Elsevier Saunders; 2011. P. 642–660.Barron K, Athreya B, Kastner D. Periodic fever syndromes and other inherited autoinflammatory diseases in: Textbook of pediatric rheumatology. Cassidy JT, et al., editors. 6th ed., Elsevier Saunders; 2011. P. 642–660.Muckle TJ, Wells M. Urticaria, deafness and amyloidosis: a new heredo-familial syndrome. Q J Med. 1962 Apr;31:235–48.Muckle TJ, Wells M. Urticaria, deafness and amyloidosis: a new heredo-familial syndrome. Q J Med. 1962 Apr;31:235–48.Woo P, Laxer RM, Sherry DD. Pediatric Rheumatology in clinical practice. Springer; 2007. P. 123–136.Woo P, Laxer RM, Sherry DD. Pediatric Rheumatology in clinical practice. Springer; 2007. P. 123–136.Козловская ЛВ, Рамеев ВВ, Янушкевич ТН и др. АА-амилоидоз при синдроме Макла–Уэллса. Терапевтический архив. 2002;(6):69-72. [Kozlovskaya LV, Rameev VV, Yanushkevich TN. AA-amiloidoz inКозловская ЛВ, Рамеев ВВ, Янушкевич ТН и др. АА-амилоидоз при синдроме Макла–Уэллса. Терапевтический архив. 2002;(6):69-72. [Kozlovskaya LV, Rameev VV, Yanushkevich TN. AA-amiloidoz inMuckle–Wells syndrome. Terapevticheskii arkhiv. 2002;(6):69–72. (In. Russ.).]Muckle–Wells syndrome. Terapevticheskii arkhiv. 2002;(6):69–72. (In. Russ.).]Yu JR, Leslie KS. Cryopyrin-Associated Periodic Syndrome: An Update on Diagnosis and Treatment Response. Curr Allergy Asthma Rep. 2011 Feb;11(1):12–20. doi: 10.1007/s11882-010-0160-9.Yu JR, Leslie KS. Cryopyrin-Associated Periodic Syndrome: An Update on Diagnosis and Treatment Response. Curr Allergy Asthma Rep. 2011 Feb;11(1):12–20. doi: 10.1007/s11882-010-0160-9.Гатторно M. Криопирин-ассоциированный периодический синдром (репринт). Вопросы современной педиатрии 2013;12(1). [Gattorno M. Cryopyrin-associated periodic syndrome (reprint). Voprosy sovremennoi pediatrii 2013;12(1). (In Russ.).]Гатторно M. Криопирин-ассоциированный периодический синдром (репринт). Вопросы современной педиатрии 2013;12(1). [Gattorno M. Cryopyrin-associated periodic syndrome (reprint). Voprosy sovremennoi pediatrii 2013;12(1). (In Russ.).]Kuemmerle-Deschner JB, Samba SD, Tyrrell PN, et al. Challenges in diagnosing Muckle–Wells syndrome: identifying two dictinct phenotypes. Arthritis Care Res (Hoboken). 2014 May;66(5):765–72. doi: 10.1002/acr.22206.Kuemmerle-Deschner JB, Samba SD, Tyrrell PN, et al. Challenges in diagnosing Muckle–Wells syndrome: identifying two dictinct phenotypes. Arthritis Care Res (Hoboken). 2014 May;66(5):765–72. doi: 10.1002/acr.22206.Hawkins PL, Lachmann HJ, Aganna E, McDermott MF. Spectrum of clinical features in Muckle–Wells syndrome and response to anakinra. Arthritis Rheum. 2004 Feb;50(2):607–12.Hawkins PL, Lachmann HJ, Aganna E, McDermott MF. Spectrum of clinical features in Muckle–Wells syndrome and response to anakinra. Arthritis Rheum. 2004 Feb;50(2):607–12.Kuemmerle-Deschner J, Koitschev A, Ummenhofer K, et al. Hearing loss in Muckle–Wells syndrome. Arthritis Rheum. 2013 Mar;65(3):824–31. doi: 10.1002/art.37810.Kuemmerle-Deschner J, Koitschev A, Ummenhofer K, et al. Hearing loss in Muckle–Wells syndrome. Arthritis Rheum. 2013 Mar;65(3):824–31. doi: 10.1002/art.37810.Kuemmerle-Deschner J, Haug I. Canakinumab in patients with cryopyrinassociated periodic syndrome: an update for clinicians. Ther Adv Musculoskelet Dis. 2013 Dec;5(6):315–29. doi: 10.1177/1759720X13502629.Kuemmerle-Deschner J, Haug I. Canakinumab in patients with cryopyrinassociated periodic syndrome: an update for clinicians. Ther Adv Musculoskelet Dis. 2013 Dec;5(6):315–29. doi: 10.1177/1759720X13502629.Jesus AA, Goldbach-Mansky R. IL-1 Blockade in autoinflammatory syndromes. Annu Rev Med. 2014;65:223–44. doi: 10.1146/annurev-med-061512-150641.Jesus AA, Goldbach-Mansky R. IL-1 Blockade in autoinflammatory syndromes. Annu Rev Med. 2014;65:223–44. doi: 10.1146/annurev-med-061512-150641.Hawkins PL, Lachmann HJ, McDermott MF. Interleikin-1 receptor antagonist in the Muckle–Wells syndrome. N Engl J Med. 2003 Jun 19;348(25):2583–4.Hawkins PL, Lachmann HJ, McDermott MF. Interleikin-1 receptor antagonist in the Muckle–Wells syndrome. N Engl J Med. 2003 Jun 19;348(25):2583–4.Kuemmerle-Deschner GB, Fizaribacliev N. Muckle–Wells syndrome effective treatment with anakinra. Arthritis Rheum. 2007;56(9):290.Kuemmerle-Deschner GB, Fizaribacliev N. Muckle–Wells syndrome effective treatment with anakinra. Arthritis Rheum. 2007;56(9):290.Hoffman HM, Throne ML, Amar NJ, et al. Efficacy and safety of rilonacept (interleukin-1 Trap) in patients with cryopyrinassociated periodic syndromes: results from two sequential placebo-controlled studies. Arthritis Rheum. 2008 Aug;58(8):2443–52. doi: 10.1002/art.23687.Hoffman HM, Throne ML, Amar NJ, et al. Efficacy and safety of rilonacept (interleukin-1 Trap) in patients with cryopyrinassociated periodic syndromes: results from two sequential placebo-controlled studies. Arthritis Rheum. 2008 Aug;58(8):2443–52. doi: 10.1002/art.23687.Federici S., Martini A., Gattorno M. The central role of anti-IL-1 blockade in the treatment of monogenic and multi-factorial autoinflammatory diseases. Front Immunol. 2013 Oct 31;4:351. doi: 10.3389/fimmu.2013.00351.Federici S., Martini A., Gattorno M. The central role of anti-IL-1 blockade in the treatment of monogenic and multi-factorial autoinflammatory diseases. Front Immunol. 2013 Oct 31;4:351. doi: 10.3389/fimmu.2013.00351.Lachmann H, Kone-Paut I, Kuemmerle-Deschner GB, et al. for the Canakinumab in CAPS Study Group. Use of canakinumab in the cryopyrin-associated periodic syndrome. N Engl J Med. 2009 Jun 4;360 (23):2416–25. doi: 10.1056/NEJMoa0810787.Lachmann H, Kone-Paut I, Kuemmerle-Deschner GB, et al. for the Canakinumab in CAPS Study Group. Use of canakinumab in the cryopyrin-associated periodic syndrome. N Engl J Med. 2009 Jun 4;360 (23):2416–25. doi: 10.1056/NEJMoa0810787.Kuemmerle-Deschner JB, Hachulla E, Gartwright R, et al. Two-year results from an open-label, multicentre, phase III study evaluating the safety and efficacy of Canakinumab in pts with cryopyrin associated periodic syndrome across different severity phenotypes: Ann Rheum Dis. 2011 Dec;70(12):2095–102. doi: 10.1136/ard.2011.152728. Epub 2011 Aug 21.Kuemmerle-Deschner JB, Hachulla E, Gartwright R, et al. Two-year results from an open-label, multicentre, phase III study evaluating the safety and efficacy of Canakinumab in pts with cryopyrin associated periodic syndrome across different severity phenotypes: Ann Rheum Dis. 2011 Dec;70(12):2095–102. doi: 10.1136/ard.2011.152728. Epub 2011 Aug 21.Ter Haar N, Lachmann H, Ozen S, et al. Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review. Ann Rheum Dis. 2013 May;72(5):678–85. doi: 10.1136/annrheumdis-2011-201268. Epub 2012 Jun 29.Ter Haar N, Lachmann H, Ozen S, et al. Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review. Ann Rheum Dis. 2013 May;72(5):678–85. doi: 10.1136/annrheumdis-2011-201268. Epub 2012 Jun 29.Imagawa T, Nishikomori R, Takada H. 2013 Safety and efficacy of canakinumab in japanese patients with phenotypes of cryopyrin associated periodic syndromes as established in the first open-label, phase-3 pivotal study (24-week results). Clin Exp Rheumatol. 2013 Mar–Apr;31(2):302–9. Epub 2013 Feb 1.Imagawa T, Nishikomori R, Takada H. 2013 Safety and efficacy of canakinumab in japanese patients with phenotypes of cryopyrin associated periodic syndromes as established in the first open-label, phase-3 pivotal study (24-week results). Clin Exp Rheumatol. 2013 Mar–Apr;31(2):302–9. Epub 2013 Feb 1.Toker O, Hashkes PJ. Critical appraisal of canakinumab in the treatment of adults and children with cryopyrin-associated periodic syndrome (CAPS). Biologics. 2010 May 25;4:131–8.Toker O, Hashkes PJ. Critical appraisal of canakinumab in the treatment of adults and children with cryopyrin-associated periodic syndrome (CAPS). Biologics. 2010 May 25;4:131–8.Салугина СО, Федоров ЕС, Кузьмина НН, Захарова ЕЮ. Ингибитор интерлейкина 1 канакинумаб в лечении криопирин-ассоциированных периодических синдромов (CAPS). Клинический опыт. Современная ревматология. 2014;(4):17–24. [Salugina SO, Fedorov ES, Kuz'mina NN, Zakharova EYu. The interleukin 1 inhibitor canakinumab in the treatment of cryopyrin-associated periodic syndromesСалугина СО, Федоров ЕС, Кузьмина НН, Захарова ЕЮ. Ингибитор интерлейкина 1 канакинумаб в лечении криопирин-ассоциированных периодических синдромов (CAPS). Клинический опыт. Современная ревматология. 2014;(4):17–24. [Salugina SO, Fedorov ES, Kuz'mina NN, Zakharova EYu. The interleukin 1 inhibitor canakinumab in the treatment of cryopyrin-associated periodic syndromes(CAPS): clinical experience. Sovremennaya revmatologiya = Modern Rheumatology Journal. 2014;(4):17–24. (in Russ.).] DOI: http://dx.doi.org/10.14412/1996-7012-2014-4-17-24.(CAPS): clinical experience. Sovremennaya revmatologiya = Modern Rheumatology Journal. 2014;(4):17–24. (in Russ.).] DOI: http://dx.doi.org/10.14412/1996-7012-2014-4-17-24.

The authors declare that there are no conflicts of interest present.