Preview

Current Pediatrics

Advanced search

Muckle–Wells Syndrome in a Child With Recurrent Urticaria

https://doi.org/10.15690/vsp.v16i2.1721

Abstract

Cryopyrin associated periodic syndromes (CAPS) are rare monogenic autoinflammatory diseases from the group of hereditary periodic syndromes caused by a regulation defect of inflammatory cytokines, in particular interleukin 1β. They include familial cold autoinflammatory syndrome (FCAS), Muckle–Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (CINCA/NOMID). Previously, Muckle–Wells syndrome was considered as a triad of symptoms — urticaria, deafness, and reactive amyloidosis. Today, the spectrum of symptoms is constantly expanding: it includes fever, fatigue, conjunctivitis, arthralgia, arthritis, myalgia, irritability, headache, abdominal pain, mouth ulcers, pericarditis, which involves doctors of different specialties in the diagnostic and treatment process, who are not always familiar with this disease. In Russia, single observations of this disease have been described. We present the clinical case of Muckle–Wells syndrome in a 5-year-old child, whose first symptoms appeared at the age of 2 months. This observation underscores the complexity of diagnosing the syndrome in children.

About the Authors

Elena M. Kamaltynova
Siberian State Medical University; Regional Children’s Hospital
Russian Federation
Tomsk


Iulia P. Chasovskikh
Siberian State Medical University
Russian Federation
Tomsk


Zinaida A. Maevskaia
Siberian State Medical University; Regional Children’s Hospital
Russian Federation
Tomsk


Svetlana O. Salugina
Research Institute of Rheumatology named after V.A. Nasonova
Russian Federation
Moscow


Evgenii S. Fedorov
Research Institute of Rheumatology named after V.A. Nasonova
Russian Federation
Moscow


Inna E. Gerbek
Siberian State Medical University; Tomsk Regional Clinical Hospital
Russian Federation
Tomsk


References

1. Салугина С.О., Федоров Е.С., Кузьмина Н.Н. Современные подходы к диагностике, лечению и мониторингу пациентов с криопирин-ассоциированными периодическими синдромами (CAPS) // Современная ревматология. — 2016. — Т. 10. — № 2 — С. 4–11. [Salugina SO, Fedorov ES, Kuzmina NN. Current approaches to diagnosis, treatment, and monitoring in patients with cryopyrinassociated periodic syndromes (CAPS). Modern Rheumatology Journal. 2016;10(2):4–11. (In Russ).] doi: 10.14412/1996-7012-2016-2-4-11.

2. Muckle TJ, Wells M. Urticaria, deafness and amyloidosis: a new heredo-familial syndrome. QJM. 1962;31(2):235–248. doi: 10.1093/oxfordjournals.qjmed.a066967.

3. Hoffman HM. Familial cold autoinflammatory syndrome. Allergy Clin Immunol Int. 2005;17(4):131–136. doi: 10.1027/0838-1925.17.4.131.

4. Goldbach-Mansky R. Blocking interleukin-1 in rheumatic diseases. Ann N Y Acad Sci. 2009;1182:111–123. doi: 10.1111 /j.1749-6632.2009.05159.x.

5. Kummerle-Deschner JB, Tyrrell PN, Reess F, et al. Risk factors for severe Muckle-Wells syndrome. Arthritis Rheum. 2010;62(12): 3783–3791. doi: 10.1002/art.27696.

6. Tzaribachev N, Benseler SM, Tyrrell PN, et al. Predictors of delayed referral to a pediatric rheumatology center. Arthritis Rheum. 2009;61(10):1367–1372. doi: 10.1002/art.24671.

7. Cuisset L, Jeru I, Dumont B, et al. Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemio logical study and lessons from eight years of genetic analysis in France. Ann Rheum Dis. 2011;70(3):495–499. doi: 10.1136/ard.2010.138420.

8. Kuemmerle-Deschner JB, Dembi Samba S, Tyrrell PN, et al. Challenges in diagnosing Muckle-Wells syndrome: identifying two distinct phenotypes. Arthritis Care Res (Hoboken). 2014;66(5): 765–772. doi: 10.1002/acr.22206.

9. Костик М.М., Снегирева Л.С., Дубко М.Ф., и др. Как распознать пациента с аутовоспалительным синдромом: клинико-диагностические алгоритмы // Современная ревматология. — 2013. — Т. 7. — № 3 — С.14–20. [Kostik MM, Snegireva LS, Dubko MF, et al. How to identify a patient with autoinflammatory syndrome: Clinical and diagnostic algorithms. Modern Rheumatology Journal. 2013;7(3):14–20. (In Russ).] doi: 10.14412/1996-7012-2013-5.

10. Watts RA, Nicholls A, Scott DG. The arthropathy of the MuckleWells syndrome. Br J Rheumatol. 1994;33(12):1184–1187. doi: 10.1093/rheumatology/33.12.1184.

11. Terreri MT, Bernardo WM, Len CA, et al. Guidelines for the management and treatment of periodic fever syndromes Cryopyrinassociated periodic syndromes (cryopyrinopathies, CAPS). Rev Bras Reumatol Engl Ed. 2016;56(1):44–51. doi: 10.1016/j.rbre.2015.08.020.

12. Hoffman HM, Mueller JL, Broide DH, et al. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet. 2001;29(3):301–305. doi: 10.1038/ng756.

13. Schroder K, Tschopp J. The inflammasomes. Cell. 2010;140(6): 821–832. doi: 10.1016/j.cell.2010.01.040.

14. Coll RC, O’Neill L, Schroder K. Questions and controversies in innate immune research: what is the physiological role of NLRP3? Cell Death Discov. 2016;2:16019. doi: 10.1038/cddiscovery.2016.19.

15. Prochnicki T, Mangan MS, Latz E. Recent insights into the molecular mechanisms of the NLRP3 inflammasome activation. F1000 Res. 2016;5:1469. doi: 10.12688/f1000research.8614.1.

16. fmf.igh.cnrs.fr [Internet]. The registry of Hereditary Autoinflammatory Disorders Mutations [cited 2017 Mar 19]. Available from: http://fmf.igh.cnrs.fr/ISSAID/infevers/.

17. Shinar Y, Obici L, Aksentijevich I, et al. Guidelines for the genetic diagnosis of hereditary recurrent fevers. Ann Rheum Dis. 2012;71(10):1599–1605. doi: 10.1136/annrheumdis-2011-201271.

18. Ostrov BE. Immunotherapeutic biologic agents in autoimmune and autoinflammatory diseases. Immunol Invest. 2015;44(8): 777–802. doi: 10.3109/08820139.2015.1093912.

19. Слепцова Т.В., Алексеева Е.И., Савостьянов К.В., и др. Высокая эффективность канакинумаба у пациента с поздно диагностированным криопиринассоциированным синдромом (синдром CINCA) // Педиатрическая фармакология. — 2015. — Т. 12. — № 4 — С. 456–461. [Sleptsova TV, Alekseeva EI, Savostianov KV, et al. High efficiency of kanakinumabum for a patient with a late diagnosed chronic infantile neurological cutaneous articular syndrome (CINCA). Pediatric pharmacology. 2015;12(4):456–461. (In Russ).] doi: 10.15690/pf.v12i4.1428.

20. Слепцова Т.В., Алексеева Е.И., Савостьянов К.В., и др. Опыт применения канакинумаба у пациента с тяжелым криопиринассоциированным синдромом (синдром CINCA/NOMID) // Вопросы современной педиатрии. — 2014. — Т. 13. — № 3 — С. 97–103. [Sleptsova TV, Alexeeva EI, Savost’yanov KV, et al. Experience in application of canakinumab in patients with cryopyrinassociated syndrome (syndrome CINCA/NOMID). Current pediatrics. 2014;13(3):97–103. (In Russ).] doi: 10.15690/vsp.v13i3.1035.


Review

For citations:


Kamaltynova E.M., Chasovskikh I.P., Maevskaia Z.A., Salugina S.O., Fedorov E.S., Gerbek I.E. Muckle–Wells Syndrome in a Child With Recurrent Urticaria. Current Pediatrics. 2017;16(2):180-183. (In Russ.) https://doi.org/10.15690/vsp.v16i2.1721

Views: 3527


ISSN 1682-5527 (Print)
ISSN 1682-5535 (Online)