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施尼茨勒综合征:一种罕见病实体。

Schnitzler Syndrome: A Recherche Entity.

作者信息

Kumar Rajesh, Behera Anupama, Seal Ratul, Patra Subhabrata

机构信息

Internal Medicine, All India Institute of Medical Sciences, Bhubaneswar, IND.

出版信息

Cureus. 2021 Feb 14;13(2):e13338. doi: 10.7759/cureus.13338.

DOI:10.7759/cureus.13338
PMID:33747647
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7965238/
Abstract

Schnitzler syndrome (SS) is a rare disease of unknown etiology. Literature suggests that only around 300 well-diagnosed cases have only been reported worldwide and rarely from India. This syndrome has a slight male predominance with a mean age of onset of around 50 years. It is considered an autoinflammatory disease with presentation mimicking adult-onset Still's disease and systemic lupus erythematosus, and its presentation most commonly includes recurrent fever, urticarial rash, arthralgia, and bone pains. The probable pathogenesis is considered to be cytokine-mediated, mostly interleukin- 1 (IL-1), and its association with the NRLP3 gene has been mentioned in a few reports. Herein, we report a case of a 40-year-old female who presented to us with fever, jaundice, rash, and pedal edema, and detailed investigations revealed leukocytosis with low complements, normal bone marrow with an 'M band' in the immunoglobulin M (IgM) region. Skin biopsy was suggestive of leukocytoclastic vasculitis and renal biopsy was suggestive of membranoproliferative glomerulonephritis (MPGN). All autoimmune and viral markers were negative, including cryoglobulins, and by excluding all possible differentials, the diagnosis of Schnitzler syndrome was confirmed. SS is a disease of exclusion and several autoimmune, hematological infections need to be excluded, hence, this requires extensive workup. It's the rarest of rare cases, with a variable presentation, specially pyrexia of unknown origin (PUO) with rash, hence this case will open the physician's vision of undiagnosed cases, and further research will help understand its pathogenesis.

摘要

施尼茨勒综合征(SS)是一种病因不明的罕见疾病。文献表明,全球仅报道了约300例确诊病例,印度的报道极少。该综合征男性略占优势,平均发病年龄约为50岁。它被认为是一种自身炎症性疾病,临床表现类似于成人斯蒂尔病和系统性红斑狼疮,最常见的表现包括反复发热、荨麻疹样皮疹、关节痛和骨痛。其可能的发病机制被认为是细胞因子介导的,主要是白细胞介素-1(IL-1),少数报告提到了它与NRLP3基因的关联。在此,我们报告一例40岁女性患者,她因发热、黄疸、皮疹和足部水肿前来就诊,详细检查显示白细胞增多伴补体降低,骨髓正常但免疫球蛋白M(IgM)区域有“M带”。皮肤活检提示白细胞破碎性血管炎,肾活检提示膜增生性肾小球肾炎(MPGN)。所有自身免疫和病毒标志物均为阴性,包括冷球蛋白,通过排除所有可能的鉴别诊断,确诊为施尼茨勒综合征。SS是一种排除性疾病,需要排除多种自身免疫性、血液学感染,因此需要进行广泛的检查。这是极为罕见的病例,表现多样,尤其是不明原因发热(PUO)伴皮疹,因此该病例将拓宽医生对未确诊病例的认识,进一步的研究将有助于了解其发病机制。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5e35/7965238/df2af5e1ea54/cureus-0013-00000013338-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5e35/7965238/df2af5e1ea54/cureus-0013-00000013338-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5e35/7965238/df2af5e1ea54/cureus-0013-00000013338-i01.jpg

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引用本文的文献

1
Background and Clinical Features of a Unique and Mysterious Autoinflammatory Disease, Schnitzler Syndrome.一种独特且神秘的自身炎症性疾病——施尼茨勒综合征的背景与临床特征
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本文引用的文献

1
Kidney involvement in the Schnitzler syndrome, a rare disease.肾脏受累于施尼茨勒综合征,一种罕见疾病。
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Another devastating complication of the Schnitzler syndrome: AA amyloidosis.
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