Diagnosis, Treatment and Care of Pediatric Rheumatology: 2nd Edition

A special issue of Children (ISSN 2227-9067). This special issue belongs to the section "Pediatric Allergy and Immunology".

Deadline for manuscript submissions: 15 August 2026 | Viewed by 7526

Special Issue Editors


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Guest Editor
Department of Pediatric Medicine, Walter Reed National Military Medical Center, Maryland, MD 20814, USA
Interests: pediatric rheumatology
Special Issues, Collections and Topics in MDPI journals

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Guest Editor
1. Division of Allergy, Immunology and Rheumatology, David Geffen School of Medicine, 10833 Le Conte Ave, Los Angeles, CA 90095, USA
2. Program Director of Pediatric Rheumatology, Mattel Children's Hospital UCLA, 757 Westwood Plaza, Los Angeles, CA 90095, USA
Interests: juvenile idiopathic arthritis (JIA); systemic lupus erythematosus (SLE); DNA repair in autoimmune disease
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

It is a pleasure to invite you to take part in an upcoming Special Issue entitled “Diagnosis, Treatment and Care of Pediatric Rheumatology” in Children (ISSN 2227-9067). This is an international, peer-reviewed, open access journal published by MDPI and listed under PubMed as clinical and preclinical research with an impact factor of 2.0.

This issue offers authors with the opportunity to publish their latest studies on practice-based learning in the care of children with rheumatic diseases for primary care providers and supportive literature advocating for medications that may need authorization from insurance companies. We welcome original research papers and reviews on autoimmune, autoinflammatory, and immune dysregulatory conditions in children. 

Feel free to contact us directly with any questions. We look forward to receiving your papers.  

Dr. Olcay Y. Jones
Prof. Dr. Deborah K. McCurdy
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Children is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2400 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • pediatric rheumatology
  • autoimmune
  • inflammation
  • referral
  • multispecialty care
  • diagnosis
  • treatment
  • outcomes
  • advocacy
  • access to medicine

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Related Special Issue

Published Papers (5 papers)

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6 pages, 198 KB  
Article
Association Between Vitamin D, Vitamin B12 and Folate Levels and Persistent Subclinical Inflammation in Pediatric Familial Mediterranean Fever
by Büşra Tetik Dinçer, Esma Akboğa, Fazilet Melikoğlu and Gül Özçelik
Children 2026, 13(3), 371; https://doi.org/10.3390/children13030371 - 5 Mar 2026
Viewed by 690
Abstract
Background/Objectives: Familial Mediterranean fever (FMF) is the most common periodic fever syndrome worldwide, and persistent subclinical inflammation has been reported in 10–20% of cases during attack-free periods. Although the immunomodulatory effects of vitamin D, vitamin B12 and folate have been investigated in [...] Read more.
Background/Objectives: Familial Mediterranean fever (FMF) is the most common periodic fever syndrome worldwide, and persistent subclinical inflammation has been reported in 10–20% of cases during attack-free periods. Although the immunomodulatory effects of vitamin D, vitamin B12 and folate have been investigated in various conditions, data on their relationship with subclinical inflammation in FMF patients remain limited. This study aimed to evaluate the association between micronutrient levels and subclinical inflammation in pediatric FMF. Methods: Children aged 2–18 years with an FMF diagnosis of more than two years, receiving regular colchicine therapy, and attack-free for at least two months were included. Patients with other autoinflammatory diseases, colchicine resistance, concomitant renal disease, active infection, or inadequate follow-up were excluded. Demographic, clinical, genetic, and biochemical data were analyzed. Results: A total of 253 patients were included, with a median age of 14 years (range, 3–18), and 133 (52.6%) were female. Persistent subclinical inflammation was observed in 31 patients (12.3%). Genetic analysis revealed homozygous M694V mutations in 71 patients (28%). Median vitamin levels were as follows: vitamin D 17.3 ng/mL (IQR 10.6–27.1), vitamin B12 288 pg/mL (IQR 214–367), and folate 6.4 ng/mL (IQR 4.8–7.6). Comparison between patients with and without subclinical inflammation showed no significant differences in micronutrient levels. Conclusions: Although micronutrients have been reported to play immunomodulatory roles, we did not observe significant association between vitamin levels and subclinical inflammation in pediatric FMF patients in our study. Full article
(This article belongs to the Special Issue Diagnosis, Treatment and Care of Pediatric Rheumatology: 2nd Edition)
12 pages, 902 KB  
Article
Clinical Practice Variation Among Pediatric Rheumatologists Treating Kawasaki Disease: Results of a North American Survey
by Daniel Ibanez, Bianca Lang, Julia Shalen, Ali Yalcindag, Linda Wagner-Weiner, Kenneth N. Schikler, Shoghik Akoghlanian, Hulya Bukulmez, Kristen Hayward, Laura Berbert, Sivia Lapidus, Andrea A. Ramirez and Cagri Yildirim-Toruner
Children 2025, 12(12), 1695; https://doi.org/10.3390/children12121695 - 16 Dec 2025
Viewed by 781
Abstract
Background: The best treatment for children with KD who fail to respond to the first dose of IVIG (refractory KD) is currently unknown. The purpose of this study was to determine treatment practices of pediatric rheumatologists in North America who manage IVIG-refractory [...] Read more.
Background: The best treatment for children with KD who fail to respond to the first dose of IVIG (refractory KD) is currently unknown. The purpose of this study was to determine treatment practices of pediatric rheumatologists in North America who manage IVIG-refractory KD. Methods: A 34-item web-based survey was sent to 102 randomly selected members of the Childhood Arthritis and Rheumatology Research Alliance (CARRA). The anonymous survey addressed the use of primary intensification as well as the treatment of IVIG-refractory KD. Results: The response rate was 82%; 56% (all pediatric rheumatologists) completed the survey. Primary intensification was used for macrophage activation syndrome (MAS), KD shock, and those at high risk for coronary artery aneurysms (CAAs) by 84%, 76% and 52% of responders, respectively, with corticosteroids (CSs) used most frequently. For IVIG-refractory KD without CAA, a second dose of IVIG was used most often (63% alone; 23% plus CS). With non-giant CAAs, only 15% used a second IVIG alone, 40% used IVIG plus CS, and 35% took infliximab, usually with CS/IVIG. With giant CAA, treatments used most frequently were CS, a second IVIG, and infliximab (91%, 69%, and 58%, respectively), usually as combinations of two or more medications. Conclusions: Treatment of IVIG-refractory KD varies significantly among North American pediatric rheumatologists, particularly in the presence of CAAs. Our findings emphasize the need for research to identify the most effective therapy for this KD subgroup. The current use of primary intensification and the presence and size of the CAA will need to be considered as consensus treatment plans are developed. Full article
(This article belongs to the Special Issue Diagnosis, Treatment and Care of Pediatric Rheumatology: 2nd Edition)
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14 pages, 1601 KB  
Article
Regional Gastrointestinal Permeability Patterns in Juvenile Idiopathic Arthritis: A Window into Subclinical Inflammation and Microbiota-Driven Disease Mechanisms
by Francesco La Torre, Francesca Marasciulo, Giovanni La Grasta, Vanessa Nadia Dargenio, Stefania Paola Castellaneta, Silvia Amati, Violetta Mastrorilli, Antonella Sisto, Fabio Cardinale, Ruggiero Francavilla and Fernanda Cristofori
Children 2025, 12(12), 1663; https://doi.org/10.3390/children12121663 - 8 Dec 2025
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Abstract
Objectives: To assess gastrointestinal permeability (GP) in children with Juvenile Idiopathic Arthritis (JIA) using a segment-specific sugar probe approach to assess gastric, small intestinal, and colonic permeability, and to determine whether GP alterations are associated with disease activity. Methods: This prospective study included [...] Read more.
Objectives: To assess gastrointestinal permeability (GP) in children with Juvenile Idiopathic Arthritis (JIA) using a segment-specific sugar probe approach to assess gastric, small intestinal, and colonic permeability, and to determine whether GP alterations are associated with disease activity. Methods: This prospective study included 30 children with JIA and 22 healthy controls who underwent a validated multi-sugar absorption test. Urinary excretion of sucrose, lactulose, mannitol, and sucralose was measured to evaluate gastric, small intestinal, and colonic permeability. All JIA patients had discontinued immunosuppressive therapy for at least three months before testing. None had a relapse of the disease. Disease activity was assessed using the Juvenile Arthritis Disease Activity Score (JADAS10). Comparisons were conducted between patients and controls and between remission and active disease groups. Results: None of the participants reported gastrointestinal manifestations. The lactulose/mannitol (LA/MA) ratio, a global index of small intestinal permeability, showed no significant difference between JIA patients and controls, suggesting preserved overall barrier function. However, urinary excretion of lactulose, mannitol, and sucralose was significantly higher in JIA patients, while sucrose excretion was significantly lower, indicating segment-specific alterations in small intestinal, colonic, and gastric permeability. These abnormalities were consistently present, even in patients in clinical remission. No statistically significant differences were observed between remission and active disease groups, though a trend toward increased permeability was noted in the latter. Conclusions: Children with JIA exhibit segmental GP alterations that persist independently of clinical disease activity. Despite the relatively small population, this exploratory study suggests subclinical mucosal dysfunction and the need for further investigation into how the gut–joint axis may be playing a role in JIA pathogenesis, including via intestinal microbiota. Full article
(This article belongs to the Special Issue Diagnosis, Treatment and Care of Pediatric Rheumatology: 2nd Edition)
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14 pages, 492 KB  
Article
Ethnic Differences in Juvenile Idiopathic Arthritis in the Circumpolar Region
by Sargylana G. Boeskorova, Marina V. Afonskaya, Vera M. Argunova, Polina A. Sleptsova, Liudmila V. Leonteva, Vasilina V. Nikiforova, Irina A. Chikova, Alexandr A. Yakovlev, Tatiana E. Burtseva and Mikhail M. Kostik
Children 2025, 12(11), 1525; https://doi.org/10.3390/children12111525 - 11 Nov 2025
Viewed by 863
Abstract
Introduction: Rheumatic diseases, including spondyloarthritis, systemic lupus erythematosus, Takayasu’s nonspecific aortoarteritis, Behcet’s disease, and Kawasaki disease, are more prevalent among Asian populations. The indigenous Sakha people, who live in the harsh conditions of the North and the Arctic regions, exhibit a unique pattern [...] Read more.
Introduction: Rheumatic diseases, including spondyloarthritis, systemic lupus erythematosus, Takayasu’s nonspecific aortoarteritis, Behcet’s disease, and Kawasaki disease, are more prevalent among Asian populations. The indigenous Sakha people, who live in the harsh conditions of the North and the Arctic regions, exhibit a unique pattern of health issues. AIM: The objective of the study is to characterize the ethnic characteristics of juvenile idiopathic arthritis (JIA) among children from the indigenous population of the Republic of Sakha (Yakutia) and compare them with Caucasians (Russians) living in the same region. This comparison aims to inform the development of tailored diagnostic and treatment strategies. Methods: The comprehensive, single-center, retrospective cohort study included medical data of all Sakha (n = 168) and Russian ethnic patients (n = 48) with JIA who were examined and treated at the Pediatric Center’s Cardiorheumatology Department at the Republican Hospital No. 1–M.E. Nikolaev National Center of Medicine—between 2016 and 2023. The ethnicity was self-reported. The standard clinical procedures and laboratory assessments, as well as the current treatment regimen, were thoroughly reviewed. Results: It was found that children of Sakha descent had a later onset of juvenile idiopathic arthritis (JIA), which was associated with the enthesitis-related arthritis (ERA) categories (51.2% vs. 18.3%, p = 0.0002). They also exhibited higher prevalence of enthesitis (19% vs. 2.0%, p = 0.003), sacroiliitis (23.8% vs. 2.0%, p = 0.0003), and HLA-B27 antigen positivity (46.3% vs. 14.6%, p = 0.00005). The Sakha population exhibited a notably higher prevalence (41.7%) of ERA, compared to the Russian population (33.3%; p = 0.0003), and they initiated biologic therapy at a later stage. However, remission rates were lower among Sakha children (29.2%) than among Russian children (72.2%, p = 0.002), as was their likelihood of achieving remission (Log-Rank test, p = 0.005), regardless of the JIA categories (p = 0.008). Sakha children had a 64.4% reduced chance of achieving remission on the first bDMARD, compared to Russian children (HR = 0.36, 95% CI: 0.18–0.71, p = 0.004). Conclusions: Distinct variations in the progression and treatment outcomes of JIA were observed between Sakha children and Caucasians. A tailored approach to the care of JIA patients is essential, considering their ethnic background. Full article
(This article belongs to the Special Issue Diagnosis, Treatment and Care of Pediatric Rheumatology: 2nd Edition)
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17 pages, 1124 KB  
Perspective
Juvenile Idiopathic Arthritis—The Rubik’s Cube of Pediatric Rheumatology
by Olcay Y. Jones, Deborah K. McCurdy, Charles H. Spencer and Daniel J. Lovell
Children 2025, 12(10), 1319; https://doi.org/10.3390/children12101319 - 1 Oct 2025
Cited by 1 | Viewed by 3833
Abstract
Background/Objectives: Juvenile Idiopathic Arthritis (JIA) is the most common autoimmune rheumatic disease in children and can vary in presentation based on the properties of the JIA subtypes. Timely diagnosis and intervention are essential for maximizing quality of life, healthy growth and development, [...] Read more.
Background/Objectives: Juvenile Idiopathic Arthritis (JIA) is the most common autoimmune rheumatic disease in children and can vary in presentation based on the properties of the JIA subtypes. Timely diagnosis and intervention are essential for maximizing quality of life, healthy growth and development, and prevention of long-term disability. This review aims to provide a clinically practical framework for the core elements important in recognition, monitoring, and management of JIA. Methods: We performed a narrative review of the current literature, complemented by real-world clinical experience from academic rheumatology practice. The review synthesizes evidence-based knowledge with practical insights to develop an approach that can be applied in daily clinical decision-making. Results: We propose a structured, stepwise method for evaluating suspected JIA, emphasizing the integration of pattern recognition with differential diagnosis. Our framework emphasizes two principal parameters: (1) the distribution of joint involvement (peripheral vs. axial) and (2) the presence of extra-articular manifestations, including uveitis, cutaneous findings, and gastrointestinal symptoms. This format aids in distinguishing major JIA subtypes and highlights their distinctive features. In addition, we review overarching principles for monitoring, assessing risk for uveitis, and treatment, and the importance of multidisciplinary care. Conclusions: This structured approach is intended to support clinicians in the accurate recognition of JIA and its subtypes, facilitate early diagnosis, and provide insights on management strategies that improve patient outcomes. Full article
(This article belongs to the Special Issue Diagnosis, Treatment and Care of Pediatric Rheumatology: 2nd Edition)
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