期刊论文详细信息
BMC Rheumatology
A unique presentation of NLRP3-associated autoinflammatory disease: case report
Case Report
Guillaume Roberge1  Hugo Chapdelaine2  Stéphanie Ducharme-Bénard3 
[1] Centre d’excellence en maladies vasculaires, Hôpital St-François d’Assise, Centre Hospitalier Universitaire de Québec–Université Laval, 10 rue de l’Espinay, G1L 3L5, Quebec, QC, Canada;Department of Allergy and Immunology, Centre Hospitalier Universitaire de Montréal, Montreal, QC, Canada;Institut de Recherches Cliniques de Montréal, 110, Avenue des Pins Ouest, H2W 1R7, Montreal, QC, Canada;Department of General Internal Medicine, Hôpital du Sacré-Coeur de Montréal, Université de Montréal, 5400 Boulevard Gouin Ouest, H4J 1C5, Montreal, QC, Canada;
关键词: NLRP3;    Autoinflammatory disease;    Cryopyrin-associated periodic syndrome;    CAPS;    NOMID;    CINCA;    Eosinophilia;    Serositis;    Arthritis;    Case report;   
DOI  :  10.1186/s41927-022-00321-8
 received in 2022-05-02, accepted in 2022-11-09,  发布年份 2022
来源: Springer
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【 摘 要 】

BackgroundNLRP3-associated autoinflammatory diseases (NLRP3-AID) are rare genetic autoinflammatory diseases characterized by chronic inflammation and an urticaria-like rash. We report an unusual presentation of severe NLRP3-AID resulting in a significant diagnostic delay of more than three decades.Case presentationThe patient presented with early-onset serositis as well as prominent peripheral eosinophilia with organ infiltration, in the absence of the classic urticaria-like rash. DNA analysis by next generation sequencing revealed a sporadic class 4 mutation c.1991T > C (p.Met662Thr) in the NLRP3 gene, confirming a diagnosis of NLRP3-AID at 36 years old. Although treatment with anti-interleukin 1 agent led to clinical remission, irreversible sequelae, namely intellectual disability and deafness, remained.ConclusionThis case highlights unique manifestations of NLRP3-AID, namely the absence of urticaria-like rash, eosinophilic organ infiltration, and pseudoseptic serositis. In order to avoid diagnostic delay and its dire consequences, NLRP3-AID should be suspected in patients displaying autoinflammatory features combined with serum and tissue eosinophilia and/or marked serositis, regardless of skin involvement.

【 授权许可】

CC BY   
© The Author(s) 2022

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Fig. 8

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