ARID5B rs10821936 and rs10994982 gene polymorphism and susceptibility to juvenile systemic lupus erythematosus and lupus nephritis

Background The prevalence of SLE and the spectrum of clinical manifestations vary widely in different races and geographical populations. Objective To investigate the possible role of ARID5B rs10821936 and rs10994982 polymorphism as a risk factor for the development of SLE in children (jSLE) and to evaluate their role in relation to clinical manifestations especially lupus nephritis (LN). Methods DNA extraction and Real-time PCR genotyping of ARID5B rs10821936 and rs10994982 were done for 104 jSLE and 282 healthy controls. Results The C allele and C containing genotypes (CC, CT and CC+CT) of ARID5B rs10821936 were higher in children with SLE (p = 0.009, OR = 1.56, 0.037, OR = 2.35, 0.016, OR = 1.81 and 0.008 OR = 1.88 respectively). ARID5B rs10994982 alleles, genotypes and haplotypes are not associated with jSLE (p > 0.05). The ARID5B rs10821936 and rs10994982 genotypes showed non-significant associations with LN, proliferative versus non proliferative and biopsy grades (p > 0.05). Conclusion ARID5B rs10821936 SNP may be a susceptibility risk factor for juvenile SLE in the studied cohort of Egyptian children.

Performance of 2019 EULAR/ACR classification criteria for Systemic Lupus Erythematosus in a pediatric population – a multicenter study

Objectives The "European League Against Rheumatism" and "American College of Rheumatology" 2019 (EULAR/ACR-19) criteria for the diagnosis of Systemic Lupus Erythematosus (SLE) were recently published, with the stated goal of maintaining the level of sensitivity and raising the level of specificity for classification of SLE in adults. The aim of this study is to examine their application to juvenile SLE (jSLE) patients. Methods In this multicenter study the charts of jSLE patients from three tertiary medical centers were reviewed and compared to patients with non-jSLE diagnosis. Pediatric rheumatologists, blinded to the original diagnosis, reviewed and diagnosed all cases. Pediatric patients' clinical and laboratory data were retrospectively extracted and then examined with regard to how they met the new and old criteria. Results Included were 225 patients (112 jSLE, 113 non-SLE). When applied to juvenile SLE classification, the sensitivity of the new EULAR/ACR-19 criteria was 0.96 (0.9-.0.99) and the specificity was 0.89 (0.82-0.94). These were comparable to the Systemic Lupus International Collaborating Clinics (SLICC) criteria. . The sensitivity of the EULAR/ACR-19 criteria improves over time and was 0.83 twelve months following disease onset, reaching 0.96 after longer than 24 months. Conclusion Among a cohort of jSLE patients, sensitivity of the new EULAR/ACR-19 criteria was found to be high and specificity may have improved slightly compared to the SLICC-12 criteria. We support the use of the new classification criteria for pediatric patients in future jSLE studies, but it should be noted that its specificity is lower than for adults.

Sinus node disfunction in an adolescent with systemic lupus erythematosus

Cardiac involvement in systemic lupus erythematosus (SLE) is well documented. The pericardium, myocardium and endocardium, as well as the coronary arteries, the valves and the conduction system can all be affected. While pericarditis is common, arrythmias are less frequently described. We present a 13-year-old male, who had fatigue, anorexia, weight loss, myalgias and arthralgias for four months. On physical examination, we identified bradycardia (heart rate 31–50 bpm), oral and nasal ulcers and polyarthritis. The laboratory results showed hemolytic anemia, hypocomplementemia, antinuclear and anti-dsDNA antibodies, hematuria and non-nephrotic proteinuria. Renal function was normal. Lupus nephritis class II was diagnosed by kidney biopsy. On the transthoracic echocardiogram we identified a minimal pericardial effusion, suggesting pericarditis, and, on the electrocardiogram, we detected sinus arrest with junctional rhythm, denoting sinus node dysfunction. The patient was diagnosed with juvenile SLE with cardiac, renal, musculoskeletal and hematologic involvement. Disease remission and cardiac rhythm control were obtained with steroids and mycophenolate mofetil. Currently, the patient is asymptomatic, with normal sinus rhythm. We described an adolescent with SLE who had sinus node dysfunction upon diagnosis. Other cases have been reported in adults but none in juvenile SLE. All SLE patients should have a thorough cardiac examination to promptly diagnose and treat the innumerous cardiac manifestations of this disease.

Systemic diseases

This chapter covers the full spectrum of systemic diseases in paediatric rheumatology including: the systemic vasculitides (HSP, Kawasaki disease, PAN, ANCA-associated vasculitis, Takayasu arteritis, Behçet's disease, cerebral vasculitis, and many others); juvenile SLE; scleroderma; JDM; overlap syndromes; antiphospholipid syndrome; sarcoid; and paediatric uveitis. In addition, it provides updated descriptions and treatment approaches for autoinflammatory diseases, including recently described diseases such as DADA, SAVI, CANDLE, and many others. Other systemic diseases described in detail include mucopolysaccharidoses and mucolipidoses; musculoskeletal features of chromosomal abnormalities; cystic fibrosis; and inflammatory bowel disease. Treatment guidelines for all these systemic diseases have been fully updated, and aligned with recent evidence-based/consensus European guidance.

Macrophage Activation Syndrome: A Report of Two Cases and a Literature Review

Macrophage activation syndrome (MAS) is a severe, potentially fatal condition that may complicate autoimmune diseases, and it belongs to hemophagocytic lymphohistiocytosis (HLH) disorders. MAS occurs in adults and children. However, it is rare in juvenile systemic lupus erythematosus (jSLE), and it is extremely rare to be the initial presentation of jSLE. Here, we report two patients with juvenile SLE who initially presented with MAS. One of the two patients is 4 years old. This is the youngest reported patient to our knowledge.