Childhood-Onset Systemic Lupus Erythematosus: A Review and Update

Harry, Onengiya; Yasin, Shima; Brunner, Hermine I.

doi:10.1016/j.jpeds.2018.01.045

Cited by 92 publications

(92 citation statements)

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“…Pediatric Rheumatology Unit, Instituto de Puericultura e Pediatria Martagão Gesteira, Universidade Federal do Rio de Janeiro (UFRJ), Rua Bruno Lobo, 50-Cidade Universitária, Rio de Janeiro, Brazil. 2 Internal Medicine Postgraduation Program, Faculty of Medicine, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil.…”

Section: Additional Fileunclassified

“…SLE affects women predominantly at reproductive age but may present at any age [1]. Childhood-onset SLE (cSLE) represents approximately 20% of SLE cases [2] and displays a higher frequency of atypical manifestations, more severe presentation and course, higher rates of disease activity and cumulative damage, than that reported for adult-onset disease [3,4].…”

Section: Introductionmentioning

confidence: 99%

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Comparison among ACR1997, SLICC and the new EULAR/ACR classification criteria in childhood-onset systemic lupus erythematosus

et al. 2019

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Background: To date there are no specific classification criteria for childhood-onset systemic lupus erythematosus (cSLE). This study aims to compare the performance among the American College of Rheumatology (ACR) 1997, the Systemic Lupus International Collaborating Clinics criteria (SLICC) and the new European League Against Rheumatism (EULAR)/ACR criteria, in a cSLE cohort. Methods: We conducted a medical chart review study of cSLE cases and controls with defined rheumatic diseases, both ANA positive, to establish each ACR1997, SLICC and EULAR/ACR criterion fulfilled, at first visit and 1-yearfollow-up. Results: Study population included 122 cSLE cases and 89 controls. At first visit, SLICC criteria had higher sensitivity than ACR 1997 (89.3% versus 70.5%, p < 0.001), but similar specificity (80.9% versus 83.2%, p = 0.791), however performance was not statistically different at 1-year-follow-up. SLICC better scored in specificity compared to EULAR/ACR score ≥ 10 at first visit (80.9% versus 67.4%, p = 0.008) and at 1-year (76.4% versus 58.4%, p = 0.001), although sensitivities were similar. EULAR/ACR criteria score ≥ 10 exhibited higher sensitivity than ACR 1997 (87.7% versus 70.5%, p < 0.001) at first visit, but comparable at 1-year, whereas specificity was lower at first visit (67.4% versus 83.2%, p = 0.004) and 1-year (58.4% versus 76.4%, p = 0.002). A EULAR/ACR score ≥ 13 against a score ≥ 10, resulted in higher specificity, positive predictive value, and cutoff point accuracy. Compared to SLICC, a EULAR/ACR score ≥ 13 resulted in lower sensitivity at first visit (76.2% versus 89.3%, p < 0.001) and 1-year (91% versus 97.5%, p = 0.008), but similar specificities at both assessments. When compared to ACR 1997, a EULAR/ACR total score ≥ 13, resulted in no differences in sensitivity and specificity at both observation periods. Conclusions: In this cSLE population, SLICC criteria better scored at first visit and 1-year-follow-up. The adoption of a EULAR/ACR total score ≥ 13 in this study, against the initially proposed ≥10 score, was most appropriate to classify cSLE. Further studies are necessary to address if SLICC criteria might allow fulfillment of cSLE classification earlier in disease course and may be more inclusive of cSLE subjects for clinical studies.

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Section: Additional Fileunclassified

Section: Introductionmentioning

confidence: 99%

Comparison among ACR1997, SLICC and the new EULAR/ACR classification criteria in childhood-onset systemic lupus erythematosus

et al. 2019

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“…Of these, six patients fulfilled the clinical criteria for autoimmune diseases, including SLE [31] . The prevalence of NS and SLE is approximately 1 per 2000 births and 3.3-24 per 100 000 children, respectively [30,32] . The relationship of these two rare diseases and the high overall percentage of patients with NS who have autoimmune features suggest that they might be related and that RASopathies must be added to this growing list of monogenic SLE, including NRAS gene mutation.…”

Section: Discussionmentioning

confidence: 99%

“…The typical age at diagnosis is between 15 and 45 years. The female to male ratio varies among cohorts but is generally estimated at about 9:1and 4:1 in adult and child onset disease, respectively [32,33] . The more common early manifestations are arthritis, photosensitive rashes, glomerulonephritis, and cytopenias.…”

Section: Discussionmentioning

confidence: 99%

Genetic heterogeneity of pediatric systemic lupus erythematosus with lymphoproliferation

Liu

et al. 2019

Preprint

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Purpose: Systemic lupus erythematosus (SLE) is a rare autoimmune disease, which is more severe in case of pediatric onset. This may be due to greater involvement of genetic factors compared with adult forms. In recent years, multiple monogenic diseases with early-onset autoimmunity and lymphoproliferation have been identified, such as Autoimmune lymphoproliferative syndrome (ALPS), RAS-associated autoimmune leukoproliferative disease (RALD), Signal transducer and activator of transcription 3 (STAT3) Gain-of-Function (GOF) syndrome and Interleukin-2 receptor α (IL2RA) deficiency. Therefore, we performed whole exome sequencing in SLE children with lymphoproliferation to identify genes associated with these conditions. Methods: We enrolled seven SLE patients with lymphoproliferation, which are from different families. Demographic data, clinical manifestations, laboratory and histopathological findings, treatment, and outcome were documented. WES was performed in seven cases and their families. Suspected variants were confirmed by Sanger sequencing. Protein levels were detected in patients with gene mutations by Western blot. Results: Four patients were male, and three were female. No consanguinity was reported within the seven families. The average age at onset was 5.0 years (range from 1.2 to 10.0 years). The most common features were renal (7/7 patients), hematological (6/7 patients) involvement, and recurrent fever (6/7patients) while only two patients presented with skin involvement. Antinuclear antibodies ( ANA) at a titer of ≥1:320 was positive in all patients. All patients fulfilled four 2019 European League Against Rheumatism/American College of Rheumatology (EULAR/ACR) criteria for the classification of SLE. We identified a somatic activating NRAS variant (c.38 A>G, p.G13C) in peripheral venous blood from four patients, at levels ranging from 8.8% to 42.8% in variant tissues, that was absent from their parents. BCL-2-Interacting Mediator of Cell Death (BIM) levels in peripheral blood mononuclear cells (PBMCs) from four patients were markedly reduced, whereas those in control was normal. Another two mutations, c.559C>T (p.Q187X) in the TNFAIP3 gene and c.3061G>A (p.E1021K) in PIK3CD gene, were detected in two patients, respectively. Conclusion: SLE is a novel phenotype of germline mutation in PI3CKD gene and somatic mutation in NRAS gene. These genes, NRAS , TNFAIP3 and PIK3CD , should be considered as candidates for SLE children with lymphoproliferation. If patients with SLE and lymphoproliferation presented with renal and hematological involvement, and recurrent fever, they need gene testing, especially in male patient.

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“…Erişkin başlangıçlı SLE'ye göre daha sık böbrek ve santral sinir sistemi tutulumu yaptığı için hem morbiditesi hem de mortalitesi daha fazladır. [1][2][3][4][5][6] Erişkin başlangıçlı form ile 18 yaşından önce başlayan pediatrik SLE hastalarını karşılaştıran yeterince çalışma bulunmaktadır. Ancak son dönemlerde, pediatrik SLE'nin de kendi içinde çeşitli yaş grupları açısından organ tutulumları, hastalık aktivitesi ve hasarı, morbidite ve mortalite açısından fark olup olmadığı merak konusu olmuştur.…”

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Comparison of Early-Onset and Late-Onset Pediatric Systemic Lupus Erythematosus

Şahin¹,

Kasapçopur²

2018

Turkiye Klinikleri J Pediatr

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Ö ÖZ ZE ET T A Am ma aç ç: : Pediatrik başlangıçlı sistemik lupus eritematozusun (SLE) erken ve geç başlangıçlı formlarının klinik gidişi, hastalık aktivitesi, organ tutulumları ve otoantikor pozitiflikleri ile ilgili sonuçlar literatürde oldukça farklılık göstermektedir. Bu çalışmada, bu iki grubun, organ tutulumları, laboratuvar verileri, medikal tedavileri, hastalık aktiviteleri, hasar oranları açısından karşılaştırılması amaçlanmıştır. G Ge er re eç ç v ve e Y Yö ön nt te em ml le er r: : Merkezimizde en az 6 aydır izlem altında olan pediatrik SLE hastaları, hastalık başlangıç yaşına göre A grubu (<12 yaş) ve B grubu (≥12 yaş ve <18 yaş) olarak iki gruba ayrıldı ve tüm veriler hasta dosyalarından geriye dönük alınarak not edildi. B Bu ul lg gu ul la ar r: : Hastalık başlangıcı prepubertal dönemde olan (A grubu) 39 hasta var iken, adölesan dönemde hastalığı başlayan (B grubu) 43 hasta bulunmakta idi. Ortanca tanı koyma süreci erken başlangıçlı pediatrik SLE hastalarında yaklaşık 8 aydı ve bu geç başlangıçlı gruba (ortanca 1 ay) göre belirgin uzundu. Klinik özellikler ve organ tutulum sıklıkları açısından karşılaştırma yapıldığında ise iki grup arasındaki tek fark konstitüsyonel yakınmalarda idi. Ateş, hâlsizlik, kilo kaybı gibi konstitüsyonel yakınmaların sıklığı adölesanlarda (n=29, %67,4), erken başlangıçlı gruba (n=17, %43,6) göre önemli derecede fazla bulundu. Ortalama hasar ve aktivite skorları açısından gruplar arasında fark bulunmadı. S So on nu uç ç: : Erken ve geç başlangıçlı pediatrik SLE'de organ tutulumları, hastalık aktivitesi ve hasar oranları benzerdir. Ancak erken başlangıçlı SLE, hem konstitüsyonel yakınmaların azlığı hem de o yaş grubunda ayırıcı tanılar içinde daha az akla gelmesi nedeni ile geç tanı almaktadır.A An na ah h t ta ar r K Ke e l li i m me e l le er r: : Pediatrik sistemik lupus eritematozus; prepubertal; postpubertal; nefrit; nörolojik tutulum A AB BS S T TR RA AC CT T O Ob bj je ec ct ti iv ve e: : There are conflicting results about disease manifestations, organ involvement patterns, disease activity and the rate of autoantibody positivity in pediatric systemic lupus erythematosus based on the age at disease onset. We aimed to compare the disease characteristics, disease activity, damage scores, medications, laboratory data between 2 different age groups. M Ma at te er ri ia al l a an nd d M Me et th ho od ds s: : The pediatric SLE patients who have been followed-up at least 6 months were divided into two groups based on age at disease onset: group A (early onset and school-aged children that are <12 years old), group B (adolescents that are ≥12 years-old and <18 years-old). All data have been retrieved from patient records in a retrospective manner. R Re es su ul lt ts s: : Thirty-nine patients had their disease onset before 12-years-old and 43 patients at or after 12-years-old. Delay in diagnosis in younger SLE patients were significantly higher than that of the adolescents by means of months (median 8 versus 1 months). The only difference between groups were in the frequen...

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Childhood-Onset Systemic Lupus Erythematosus: A Review and Update

Cited by 92 publications

References 100 publications

Comparison among ACR1997, SLICC and the new EULAR/ACR classification criteria in childhood-onset systemic lupus erythematosus

Comparison among ACR1997, SLICC and the new EULAR/ACR classification criteria in childhood-onset systemic lupus erythematosus

Genetic heterogeneity of pediatric systemic lupus erythematosus with lymphoproliferation

Comparison of Early-Onset and Late-Onset Pediatric Systemic Lupus Erythematosus

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