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重复坏死性淋巴结炎伴 MEFV 基因突变。

Repeated Necrotizing Lymphadenitis with MEFV Gene Mutations.

机构信息

Department of Nephrology and Laboratory Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Japan.

Department of Nephrology, School of Medicine, Kanazawa Medical University, Japan.

出版信息

Intern Med. 2022 Apr 1;61(7):1105-1110. doi: 10.2169/internalmedicine.7882-21. Epub 2021 Sep 11.

DOI:10.2169/internalmedicine.7882-21
PMID:34511567
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9038464/
Abstract

We herein report a 36-year-old man with repeated necrotizing lymphadenitis due to MEFV gene mutations. The patient's chief complaints were a fever and painful cervical lymphadenopathy. We diagnosed him with necrotizing lymphadenitis based on the pathological findings of the lymph nodes and the exclusion of other differential diseases. The same episode recurred four times. We speculated the involvement of autoinflammatory backgrounds and detected MEFV gene mutations of E148Q (homo), P369S, and R408Q. Considering the elevation of interleukin-18, these mutations probably played roles in the repeated necrotizing lymphadenitis.

摘要

我们在此报告一例因 MEFV 基因突变导致反复发生坏死性淋巴结炎的 36 岁男性患者。该患者的主要症状是发热和颈淋巴结痛。根据淋巴结的病理发现和排除其他鉴别疾病，我们诊断为坏死性淋巴结炎。同一病症反复发作 4 次。我们推测其涉及自身炎症背景，并检测到 MEFV 基因 E148Q（纯合子）、P369S 和 R408Q 突变。考虑到白细胞介素-18 的升高，这些突变可能在反复发生的坏死性淋巴结炎中起作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0d94/9038464/dd61ac861885/1349-7235-61-1105-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0d94/9038464/72b70b4241fb/1349-7235-61-1105-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0d94/9038464/559357e7d5bf/1349-7235-61-1105-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0d94/9038464/eee4b69ee5e6/1349-7235-61-1105-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0d94/9038464/dd61ac861885/1349-7235-61-1105-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0d94/9038464/72b70b4241fb/1349-7235-61-1105-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0d94/9038464/559357e7d5bf/1349-7235-61-1105-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0d94/9038464/eee4b69ee5e6/1349-7235-61-1105-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0d94/9038464/dd61ac861885/1349-7235-61-1105-g004.jpg

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Clin Exp Rheumatol. 2020 Sep-Oct;38 Suppl 127(5):49-52. Epub 2020 Dec 10.
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Treatment options for periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome in children and adults: a narrative review.
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Clin Rheumatol. 2019 Jan;38(1):11-17. doi: 10.1007/s10067-018-4361-2. Epub 2018 Nov 28.
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Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome: a Review of the Pathogenesis.周期性发热、阿弗他口炎、咽炎和颈淋巴结炎（PFAPA）综合征：发病机制综述
Curr Rheumatol Rep. 2016 Apr;18(4):18. doi: 10.1007/s11926-016-0567-y.
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