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Pediatric Systemic Lupus Erythematosus: Learning From Longer Follow Up to Adulthood.

ABSTRACT: Background: Pediatric systemic lupus erythematosus (pSLE) is a rare condition, representing approximately 10% of SLE cases. The aim of this study was to identify variables to improve the diagnostic awareness and management of pSLE patients. Methods: This retrospective study included 25 patients diagnosed with pSLE and followed at the University of Pisa. We collected data about clinical profile at disease onset and during a long-term follow-up, including disease activity, organ damage development, and treatments received. Results: The mean patient age at disease onset was 14.6 ± 1.6 years, and the mean follow-up period was 14.17 ± 8.04 years. The most common initial manifestations were arthritis, malar rash, and cytopenias. The median time to diagnosis since the first symptoms was 6 months, and was significantly longer in patients with hematological onset (54 months). During follow-up, the number of patients with renal involvement showed a significant increase, from 36% at diagnosis to 72.2% after 10 years of disease evolution. Patients who developed chronic organ damage maintained a higher time-averaged disease activity during follow-up and received a significantly higher dose of corticosteroids. Conclusion: Patients with immune cytopenia represent a group deserving strict clinical follow-up for the risk of evolution to SLE. Intense surveillance of renal function, early treatment and steroid-sparing strategies should be strongly considered in the management of pSLE patients.

SUBMITTER: Costagliola G

PROVIDER: S-EPMC5964827 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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Pediatric Systemic Lupus Erythematosus: Learning From Longer Follow Up to Adulthood.

Costagliola Giorgio G Mosca Marta M Migliorini Paola P Consolini Rita R

Frontiers in pediatrics 20180516

<b>Background:</b> Pediatric systemic lupus erythematosus (pSLE) is a rare condition, representing approximately 10% of SLE cases. The aim of this study was to identify variables to improve the diagnostic awareness and management of pSLE patients. <b>Methods:</b> This retrospective study included 25 patients diagnosed with pSLE and followed at the University of Pisa. We collected data about clinical profile at disease onset and during a long-term follow-up, including disease activity, organ dama ...[more]

PMID: 29868531

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Project description:Systemic lupus erythematosus (SLE) is a chronic, rare autoimmune disease. In recent years, multiple monogenic diseases with early onset autoimmunity and lymphoproliferation have been identified, such as autoimmune lymphoproliferative syndrome, rat sarcoma (RAS)-associated autoimmune leukoproliferative disease, signal transducer and activator of transcription 3 gain-of-function syndrome and interleukin-2 receptor α deficiency. Therefore, we performed whole-exome sequencing in children with SLE with lymphoproliferation to identify genes associated with these conditions.We enrolled 7 patients with SLE with lymphoproliferation from different families. Demographic data, clinical manifestations, laboratory and histopathologic findings, treatment, and outcome were documented. Whole-exome sequencing was performed in 7 patients and their families. Suspected variants were confirmed by Sanger sequencing. Protein levels were detected in patients with gene mutations by western blot.Four patients were male, and 3 were female. No consanguinity was reported within the 7 families. The average age at onset was 5.0 years (range: 1.2-10.0 years). The most common features were renal (7/7 patients) and hematologic (6/7 patients) involvement and recurrent fever (6/7 patients), while only 2 patients presented with skin involvement. Antinuclear antibodies at a titer of ≥1:320 were 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 4 patients, at levels ranging from 8.8% to 42.8% in variant tissues that were absent from their parents. B cell lymphoma (BCL)-2-interacting mediator of cell death levels in peripheral blood mononuclear cells from 4 patients were markedly reduced, whereas those in the control were normal. Another 2 mutations, c.559C>T (p.Q187X) in the TNFAIP3 gene and c.3061G>A (p.E1021K) in the PIK3CD gene were detected in 2 patients.The SLE is a novel phenotype of somatic mutations in the NRAS gene and germline mutations in the PI3CKD gene. These genes, NRAS, TNFAIP3, and PIK3CD, should be considered candidates for children with SLE with lymphoproliferation. If patients with SLE and lymphoproliferation present with renal and hematologic involvement and recurrent fever, they need gene testing, especially male patients.

Project description:IntroductionPatients with systemic lupus erythematous were vulnerable to severe coronavirus disease 2019 infection and the negative impact of disrupted healthcare delivery. Telemedicine has been a popular alternative to standard in-person care during the pandemic despite the lack of evidence.MethodsThis was a 1-year pragmatic randomized-controlled trial. Patients followed at the lupus nephritis clinic were randomized to either telemedicine or standard follow-up in a 1:1 ratio. Patients in the telemedicine group were followed up via videoconferencing. Standard follow-up group patients continued conventional in-person outpatient care. The primary outcome of the study was the proportion of patients in low disease activity after 1 year. Secondary outcomes included cost-of-illness, safety, and various patient-reported outcomes.ResultsFrom 6/2020 to 12/2021, 144 patients were randomized and 141 patients (telemedicine: 70, standard follow-up: 71) completed the study. At 1 year, 80.0% and 80.2% of the patients in the telemedicine group and standard follow-up group were in lupus low disease activity state or complete remission, respectively (p = 0.967). Systemic lupus erythematous disease activity indices, number of flares and frequency of follow-ups were also similar. There were no differences in the cost-of-illness, quality of life or mental health scores. However, significantly more patients in the telemedicine group (41.4% vs 5.6%; p < 0.001) required switch of mode of follow-up and higher proportion of them had hospitalization during the study period (32.9% vs 15.5%; p = 0.016). Being in the telemedicine group or not in low disease activity at baseline were the independent predictors of hospitalization (odds ratio: 2.6; 95% confidence interval: 1.1-6.1, odds ratio: 2.7, 95% confidence interval: 1.1-6.7, respectively) in the post hoc analysis.ConclusionsIn patients with systemic lupus erythematous, telemedicine predominant follow-up resulted in similar 1-year disease control compared to standard care. However, it needed to be complemented by in-person visits, especially in patients with unstable disease.

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Pediatric Systemic Lupus Erythematosus: Learning From Longer Follow Up to Adulthood.

Publications

Pediatric Systemic Lupus Erythematosus: Learning From Longer Follow Up to Adulthood.

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