Nailfold videocapillaroscopy in patients with deficiency of adenosine deaminase 2 (DADA2): a case-control study.

IF 2.8 3区 医学 Q1 PEDIATRICS
Pietro Francesco Bica, Caterina Matucci-Cerinic, Elvis Hysa, Andrea Cere, Silvia Rosina, Stefano Volpi, Roberta Caorsi, Alberto Sulli, Sabrina Paolino, Vanessa Smith, Maurizio Cutolo, Marco Gattorno
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引用次数: 0

Abstract

Background: Deficiency of adenosine deaminase 2 (DADA2) is a rare monogenic autoinflammatory disease mainly characterized by the presence of systemic inflammation and vascular manifestations such as vasculitis and early-onset stroke. Raynaud's phenomenon (RP) can occur in up to 22% of DADA2 patients. The aim of this work was to investigate the microvascular status of DADA2 patients by the mean of nailfold videocapillaroscopy (NVC) comparing them with adequate healthy controls (HC) and primary RP patients.

Findings: NVC data of 9 DADA2 patients (mean age 18 ± 6 y) followed at the Children Gaslini Institute were retrospectively retrieved and compared to age and sex cross matched 11 HCs and 7 with primary RP patients. The NVC parameters were classified according to the EULAR SG Fast Track Algorithm and distinguished between scleroderma-pattern (giant capillaries and/or loss of capillaries combined with abnormally shaped capillaries) and non-scleroderma patterns (non-specific NVC alterations). In all DADA2 patients, NVC showed the presence of non-specific alterations (capillaries with dilations in 100% of cases, abnormal shapes in 23% and microhaemorrhages in 11% of patients). The capillary density was normal and no scleroderma pattern was found. Between DADA2, RP patients and HC, no significant differences in the rate of each microvascular finding were detected (p values NS).

Conclusions: This is the first report on NVC in DADA2 patients. Only non-specific abnormalities were found, characterized mainly by capillaries' dilations, but in the absence of giant capillaries. However, larger studies are needed to definitively disclose the microvascular status in DADA2 disease.

腺苷脱氨酶2 (DADA2)缺乏患者的甲襞视频毛细血管镜检查:一项病例对照研究。
背景:腺苷脱氨酶2缺乏症(DADA2)是一种罕见的单基因自身炎症性疾病,主要表现为全身性炎症和血管炎、早发性卒中等血管表现。高达22%的DADA2患者可能出现雷诺氏现象(RP)。本研究的目的是通过甲襞视频毛细血管镜(NVC)研究DADA2患者的微血管状况,并将其与正常健康对照(HC)和原发性RP患者进行比较。结果:回顾性检索儿童Gaslini研究所随访的9例DADA2患者(平均年龄18±6岁)的NVC数据,并与年龄和性别交叉匹配的11例hcc和7例原发性RP患者进行比较。NVC参数根据EULAR SG快速跟踪算法进行分类,并区分硬皮病模式(毛细血管巨大和/或毛细血管缺失合并异常毛细血管)和非硬皮病模式(非特异性NVC改变)。在所有DADA2患者中,NVC显示存在非特异性改变(100%的病例毛细血管扩张,23%的患者形状异常,11%的患者微出血)。毛细血管密度正常,未见硬皮病征。在DADA2、RP和HC患者之间,各微血管发现率无显著差异(p值NS)。结论:这是关于DADA2患者NVC的第一篇报道。仅发现非特异性异常,主要表现为毛细血管扩张,但没有巨毛细血管。然而,需要更大规模的研究来明确揭示DADA2疾病的微血管状态。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Pediatric Rheumatology
Pediatric Rheumatology PEDIATRICS-RHEUMATOLOGY
CiteScore
4.10
自引率
8.00%
发文量
95
审稿时长
>12 weeks
期刊介绍: Pediatric Rheumatology is an open access, peer-reviewed, online journal encompassing all aspects of clinical and basic research related to pediatric rheumatology and allied subjects. The journal’s scope of diseases and syndromes include musculoskeletal pain syndromes, rheumatic fever and post-streptococcal syndromes, juvenile idiopathic arthritis, systemic lupus erythematosus, juvenile dermatomyositis, local and systemic scleroderma, Kawasaki disease, Henoch-Schonlein purpura and other vasculitides, sarcoidosis, inherited musculoskeletal syndromes, autoinflammatory syndromes, and others.
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