Subscribe to RSS
DOI: 10.1055/s-0029-1239527
© Georg Thieme Verlag KG Stuttgart · New York
Rückbildung der Schwerhörigkeit bei einer Patientin mit Muckle-Wells-Syndrom unter Therapie mit Anakinra
Improvement of Sensoneurinal Hearing Loss in a Patient with Muckle-Wells Syndrome Treated with AnakinraPublication History
Publication Date:
04 February 2010 (online)
![](https://www.thieme-connect.de/media/klinpaed/201004/lookinside/thumbnails/10.1055-s-0029-1239527-1.jpg)
Zusammenfassung
Das Muckle-Wells-Syndrom(MWS) ist eine Erkrankung aus der Gruppe der Cryopyrin-assoziierten periodischen Syndrome (CAPS). Vorgestellt wird ein 8-jähriges Mädchen mit MWS, bei dem neben Fieberschüben, urtikariellem Exanthem, Coxitiden, Osteitiden, beidseitiger Uveitis anterior und erhöhten laborchemischen Entzündungsparametern von C-reaktivem Protein (CRP) und Serumamyloid A (SAA) eine Schallempfindungsschwerhörigkeit beidseits bestand. Unter Therapie mit Anakinra bildete sich die klinische Symptomatik für nunmehr 2 Jahre nahezu komplett zurück. SAA und CRP blieben seit Therapiebeginn normwertig und somit langfristig das Amyloidoserisiko minimiert. Bemerkenswert ist die rasche und vollständige Rückbildung der Innenohrschwerhörigkeit. Dies wirft Fragen zur Pathophysiologie der Innenohrschwerhörigkeit bei MWS auf und unterstreicht die Vorteile einer frühen Diagnose und effektiven Therapie.
Abstract
Muckle Wells syndrome is an autoinflammatory disease in the group of cryopyrin associated periodic syndromes (CAPS). We report the case of an 8 year old girl with MWS who presented with remitting fever, urticaria, remitting coxitis, osteitis, bilateral uveitis anterior, elevated levels of C-reactive protein (CRP) and Serum amyloid A (SAA) and progressive sensoneurinal hearing loss. After starting treatment with anakinra, clinical symptoms dissolved almost completely for about two years now. CRP and SAA levels normalized quickly and sustained and as a consequence the risk of amyloidosis may be minimized. Notable is the complete recovery from sensoneurinal hearing loss merely two months after start of treatment. This brings up questions about pathophysiology of sensoneurinal hearing loss in MWS and emphasizes the benefits of an early diagnosis, as an early start of treatment possibly reduces long-term damage.
Schlüsselwörter
Muckle-Wells-Syndrom - Anakinra - Innenohrschwerhörigkeit - periodische Fiebersyndrome
Key words
Muckle-Wells syndrome - Anakinra - sensoneurinal hearing loss - periodic fever syndromes
Literatur
- 1 Agostini L. et al . NALP3 forms an IL-1β-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity. 2004; 20 319-325
- 2 Aksentijevich I. et al . De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum. 2002; 46 3340-3348
- 3 Brockow I. et al . Bundesweites Neugeborenen-Hörscreening – Erfahrungen aus dem bayerischen Modellprojekt. Klin Padiatr. 2009; 221 103
- 4 Dode C. et al . New mutations of CIAS 1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. Am J Hum genet. 2002; 70 1498-1506
- 5 Feldmann J. et al . Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet. 2002; 71 198-203
- 6 Gillmore J. et al . Amyloid load and clinical outcome in AA amyloidosis in relation to circulating concentration of serum amyloid A protein. The Lancet. 2001; 358 ((9275)) 24-29
- 7 Goldbach-Mansky R. et al . Neonatal-onset multisystem inflammatory disease responsive to Interleukin-1β inhibition. N Engl J Med.. 2006; 355 ((6)) 581-592
- 8 Hawkins PN. et al . Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis Rheum. 2004; 50 607-612
- 9 Hoffman HM. et al . Efficacy and safety of rilonacept (interleukin-1 Trap) in patients with cryopyrin-associated periodic syndromes: Results from two sequential placebo-controlled studies. Arthritis Rheum. 2008 Aug; 58 ((8)) 2443-2452
- 10 Lachmann HJ. et al . Use of canakinumab in the cryopyrin-associated periodic syndrome. N Engl J Med. 2009; 360 ((23)) 2416-2425
- 11 Leslie KS. et al . Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutations. Arch Dermatol. 2006; 142 1591-1597
- 12 Maksimovic L. et al . New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes. Rheumatology. 2008; 47 309-310
- 13 Mirault T. et al . Recovery from deafness in a patient with Muckle-Wells syndrome treated with anakinra. Arthritis Rheum. 2006; 54 1697-1700
- 14 Muckle TJ, Wells M. Urticaria, deafness and amyloidosis: a new heredofamilial syndrome. QJM. 1962; 31 235-248
- 15 Yamada T. Serum amyloid A (SAA): a concise review of biology, assay methods and clinical usefulness. Clin Chem Lab Med.. 1999; 37 381-388
- 16 Yamazaki T. et al . Anakinra improves sensory deafness in a japanese patient with Muckle-Wells syndrome, possibly by inhibiting the cryopyrin inflammasome. Arthritis Rheum. 2008; 58 864-868
- 17 Winterhalter S, Niehues T. TNF-α blocking therapy or conventional immunosupressive drugs in the therapy of children with uveitis?. An evidence based approach. Klin Padiatr. 2008; 220 342-347
Korrespondenzadresse
Dr. Ariane Kerstin KleinMD
Asklepios Kinderklinik Sankt Augustin
Allgemeine Pädiatrie
Arnold-Janssen-Str. 29
53757 Sankt Augustin
Germany
Phone: +49/2241/249 240
Fax: +49/2241/249 203
Email: ar.klein@asklepios.com