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一名27岁男性的施尼茨勒综合征:成人自身炎症性综合征的诊断与治疗困境 病例报告及文献综述

Schnitzler Syndrome in a 27-Year-Old Man: Diagnostic and Therapeutic Dilemma in Adult Auto-Inflammatory Syndromes A Case Report and Literature Review.

作者信息

Więsik-Szewczyk Ewa, Felis-Giemza Anna, Dziuk Mirosław, Jahnz-Różyk Karina

机构信息

Department of Internal Medicine, Pulmonology, Allergy and Clinical Immunology, Central Clinical Hospital of the Ministry of National Defense, Military Institute of Medicine in Warsaw, Warsaw, Poland.

Department of Connective Tissue Diseases, National Institute of Geriatrics, Rheumatology and Rehabilitation, Warsaw, Poland.

出版信息

Int J Gen Med. 2020 Sep 25;13:713-719. doi: 10.2147/IJGM.S265482. eCollection 2020.

Abstract

A 32-year-old-man, with a history of chronic urticaria from the age of 27, diagnosed with an adult-onset Still's disease and received a low dose of glucocorticoids, methotrexate and tocilizumab. Despite the long-term combined treatments, he suffered from chronic urticaria, low-grade fever and bone pain. He was found to have high inflammatory markers, hypogammaglobulinemia, monoclonal IgM - kappa light chain in serum and increased radiotracer uptake in the whole bone scintigraphy. No pathological variants for monogenic autoinflammatory diseases were present in the genome exome sequencing. These investigations confirmed the diagnosis of Schnitzler syndrome, which is an exception before the age of 35. Switching from tocilizumab to interleukin 1 receptor inhibitor, anakinra led to a full clinical response and normalisation of inflammatory markers. Patients with a history of fever and chronic urticaria are routinely tested for monoclonal gammopathy in the context of malignancy, but it should also be considered as a sign of the autoinflammatory syndrome. The Schnitzler syndrome and the adult-onset Still's disease share common features, so the diagnosis requires a thorough investigation to establish an optimal treatment. In the diagnostic algorithm, monoclonal gammopathy is usually considered red flag for malignancy but might be overlooked as a criterion of Schnitzler syndrome, particularly in young adults. We confirm that the interleukin 1 inhibitor should be the first line of therapy in Schnitzler syndrome, and in the presented case we found it more effective than the interleukin 6 blockade. The main goal of this paper is to increase awareness of Schnitzler syndrome among health care professionals. We aim to present features which can be helpful in differential diagnosis.

摘要

一名32岁男性,自27岁起患有慢性荨麻疹,被诊断为成人斯蒂尔病,并接受了低剂量糖皮质激素、甲氨蝶呤和托珠单抗治疗。尽管进行了长期联合治疗,他仍患有慢性荨麻疹、低热和骨痛。他的炎症指标升高、低丙种球蛋白血症、血清中单克隆IgM-κ轻链以及全身骨闪烁显像中放射性示踪剂摄取增加。基因组外显子测序未发现单基因自身炎症性疾病的病理变异。这些检查确诊为施尼茨勒综合征,这在35岁之前较为罕见。从托珠单抗换用白细胞介素1受体抑制剂阿那白滞素后,临床症状完全缓解,炎症指标恢复正常。有发热和慢性荨麻疹病史的患者在恶性肿瘤背景下通常会进行单克隆丙种球蛋白病检测,但也应将其视为自身炎症综合征的一个迹象。施尼茨勒综合征和成人斯蒂尔病有共同特征,因此诊断需要全面检查以确定最佳治疗方案。在诊断算法中,单克隆丙种球蛋白病通常被视为恶性肿瘤的警示信号,但可能会被忽视作为施尼茨勒综合征的一个标准,尤其是在年轻人中。我们证实白细胞介素1抑制剂应作为施尼茨勒综合征的一线治疗药物,在本病例中我们发现它比白细胞介素6阻断剂更有效。本文的主要目的是提高医护人员对施尼茨勒综合征的认识。我们旨在呈现有助于鉴别诊断的特征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ddff/7532303/41cb30fbbe12/IJGM-13-713-g0001.jpg

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