Profile of patients with Juvenile Dermatomyositis and Anti-MDA5 autoantibodies.

IF 3.1 3区医学 Q1 PEDIATRICS

Pediatric Research Pub Date : 2024-09-23 DOI:10.1038/s41390-024-03551-3

Pandiarajan Vignesh, Pallavi L Nadig, Suprit Basu, Shravani Reddy, Reva Tyagi, Aditya Dod, Rajni Kumrah, Ravinder Garg, Saniya Sharma, Manpreet Dhaliwal, Rakesh Kumar Pilania, Ankur Jindal, Deepti Suri, Amit Rawat, Surjit Singh

{"title":"Profile of patients with Juvenile Dermatomyositis and Anti-MDA5 autoantibodies.","authors":"Pandiarajan Vignesh, Pallavi L Nadig, Suprit Basu, Shravani Reddy, Reva Tyagi, Aditya Dod, Rajni Kumrah, Ravinder Garg, Saniya Sharma, Manpreet Dhaliwal, Rakesh Kumar Pilania, Ankur Jindal, Deepti Suri, Amit Rawat, Surjit Singh","doi":"10.1038/s41390-024-03551-3","DOIUrl":null,"url":null,"abstract":"Background: Anti-MDA5 autoantibody-positive dermatomyositis (MDA5-DM) is associated with clinically amyopathic forms and rapidly progressive interstitial lung disease (ILD); however, data in children are limited. In this study, we described our cohort of anti-MDA5-positive juvenile DM (MDA5-JDM) from a tertiary care center in North India.Methods: We performed a retrospective analysis of children with MDA5-JDM who were diagnosed and followed up at our center and compared them with our anti-MDA5-negative cohort. We also compared the published literature on MDA5-DM with the juvenile cohort.Results: Of 66 children with JDM who underwent testing for MSA, 10(15.5%) had anti-MDA5 positivity. The mean age at onset of clinical manifestations was 8.4 years; male: female ratio was 7:3. Five of nine patients who underwent screening HRCT chest had ILD; one amongst them had a fatal rapidly progressive disease. Children with MDA5-JDM had significantly more arthralgia/arthritis (p = 0.006) and ILD (p = 0.0005) compared to anti-MDA5 negative JDM in our cohort. While MDA5-DM had high rates of Raynaud's phenomenon (p = 0.04) and pulmonary involvement (p = 0.001), juvenile patients had a higher prevalence of constitutional symptoms (p = 0.01), skin manifestations (p = 0.003), arthritis (p = 0.001), and muscle weakness (p = 0.001).Conclusions: Arthritis and ILD are commonly seen with MDA5-JDM; however, the frequency of ILD and clinically amyopathic forms are less common compared to adult counterparts.Impact: The frequency of anti-MDA5 antibodies in a North Indian cohort of JDM is much lower (15.5%) compared to adult studies in dermatomyositis from Southeast Asia (~25%). Incidence of interstitial lung disease (ILD) and arthritis is high in anti-MDA5 autoantibody-positive JDM. Rates of a rapidly progressive form of ILD and clinically amyopathic dermatomyositis are much lower in children compared to adults with anti-MDA5-associated dermatomyositis.","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":null,"pages":null},"PeriodicalIF":3.1000,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric Research","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1038/s41390-024-03551-3","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"PEDIATRICS","Score":null,"Total":0}

引用次数: 0

Abstract

Background: Anti-MDA5 autoantibody-positive dermatomyositis (MDA5-DM) is associated with clinically amyopathic forms and rapidly progressive interstitial lung disease (ILD); however, data in children are limited. In this study, we described our cohort of anti-MDA5-positive juvenile DM (MDA5-JDM) from a tertiary care center in North India.

Methods: We performed a retrospective analysis of children with MDA5-JDM who were diagnosed and followed up at our center and compared them with our anti-MDA5-negative cohort. We also compared the published literature on MDA5-DM with the juvenile cohort.

Results: Of 66 children with JDM who underwent testing for MSA, 10(15.5%) had anti-MDA5 positivity. The mean age at onset of clinical manifestations was 8.4 years; male: female ratio was 7:3. Five of nine patients who underwent screening HRCT chest had ILD; one amongst them had a fatal rapidly progressive disease. Children with MDA5-JDM had significantly more arthralgia/arthritis (p = 0.006) and ILD (p = 0.0005) compared to anti-MDA5 negative JDM in our cohort. While MDA5-DM had high rates of Raynaud's phenomenon (p = 0.04) and pulmonary involvement (p = 0.001), juvenile patients had a higher prevalence of constitutional symptoms (p = 0.01), skin manifestations (p = 0.003), arthritis (p = 0.001), and muscle weakness (p = 0.001).

Conclusions: Arthritis and ILD are commonly seen with MDA5-JDM; however, the frequency of ILD and clinically amyopathic forms are less common compared to adult counterparts.

Impact: The frequency of anti-MDA5 antibodies in a North Indian cohort of JDM is much lower (15.5%) compared to adult studies in dermatomyositis from Southeast Asia (~25%). Incidence of interstitial lung disease (ILD) and arthritis is high in anti-MDA5 autoantibody-positive JDM. Rates of a rapidly progressive form of ILD and clinically amyopathic dermatomyositis are much lower in children compared to adults with anti-MDA5-associated dermatomyositis.

查看原文本刊更多论文

幼年皮肌炎和抗 MDA5 自身抗体患者的概况。

背景：抗-MDA5自身抗体阳性皮肌炎（MDA5-DM）与临床上的肌病形式和快速进展的间质性肺病（ILD）有关；然而，儿童患者的数据有限。在本研究中，我们描述了来自北印度一家三级医疗中心的抗 MDA5 阳性幼年 DM（MDA5-JDM）队列：我们对在本中心确诊和随访的 MDA5-JDM 患儿进行了回顾性分析，并将他们与抗 MDA5 阴性队列进行了比较。我们还将已发表的有关 MDA5-DM 的文献与青少年队列进行了比较：结果：在66名接受了MSA检测的JDM患儿中，有10名（15.5%）抗MDA5阳性。出现临床表现的平均年龄为 8.4 岁，男女比例为 7:3。在接受 HRCT 胸部筛查的 9 名患者中，有 5 人患有 ILD，其中 1 人的病情进展迅速，最终死亡。与抗MDA5阴性的JDM患者相比，MDA5-JDM患儿的关节痛/关节炎（p = 0.006）和ILD（p = 0.0005）明显增多。MDA5-DM患者雷诺现象（p = 0.04）和肺部受累（p = 0.001）的发病率较高，而青少年患者的体质症状（p = 0.01）、皮肤表现（p = 0.003）、关节炎（p = 0.001）和肌无力（p = 0.001）的发病率较高：结论：关节炎和 ILD 常见于 MDA5-JDM；然而，与成人患者相比，ILD 和临床肌病的发生率较低：影响：与东南亚皮肌炎成人研究（约25%）相比，北印度JDM队列中抗MDA5抗体的频率（15.5%）要低得多。抗MDA5自身抗体阳性的JDM患者间质性肺病（ILD）和关节炎的发病率很高。与成人抗MDA5相关皮肌炎患者相比，儿童患快速进展型ILD和临床肌病性皮肌炎的比例要低得多。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Pediatric Research 医学-小儿科

CiteScore

6.80

自引率

5.60%

发文量

473

审稿时长

3-8 weeks

期刊介绍： Pediatric Research publishes original papers, invited reviews, and commentaries on the etiologies of children''s diseases and disorders of development, extending from molecular biology to epidemiology. Use of model organisms and in vitro techniques relevant to developmental biology and medicine are acceptable, as are translational human studies