P21 Influence of gender and age of onset on the outcome in children with systemic lupus erythematosus

Objective The aim of this study was to present the epidemiology, clinical manifestations and treatment pattern of systemic lupus erythematosus (SLE) in Egyptian patients over the country and compare the findings to large cohorts worldwide. Objectives were extended to focus on the age at onset and gender driven influence on the disease characteristics. Patients and method This population-based, multicenter, cross-sectional study included 3661 adult SLE patients from Egyptian rheumatology departments across the nation. Demographic, clinical, and therapeutic data were assessed for all patients. Results The study included 3661 patients; 3296 females and 365 males (9.03:1) and the median age was 30 years (17–79 years), disease duration 4 years (0–75 years) while the median age at disease onset was 25 years (4–75 years). The overall estimated prevalence of adult SLE in Egypt was 6.1/100,000 population (1.2/100,000 males and 11.3/100,000 females).There were 316 (8.6%) juvenile-onset (Jo-SLE) and 3345 adult-onset (Ao-SLE). Age at onset was highest in South and lowest in Cairo (p < 0.0001). Conclusion SLE in Egypt had a wide variety of clinical and immunological manifestations, with some similarities with that in other nations and differences within the same country. The clinical characteristics, autoantibodies and comorbidities are comparable between Ao-SLE and Jo-SLE. The frequency of various clinical and immunological manifestations varied between gender. Additional studies are needed to determine the underlying factors contributing to gender and age of onset differences.

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Identification of 38 novel loci for systemic lupus erythematosus and genetic heterogeneity between ancestral groups

Nature Communications ◽

10.1038/s41467-021-21049-y ◽

2021 ◽

Vol 12 (1) ◽

Author(s):

Yong-Fei Wang ◽

Yan Zhang ◽

Zhiming Lin ◽

Huoru Zhang ◽

Ting-You Wang ◽

...

Keyword(s):

Systemic Lupus Erythematosus ◽

Lupus Erythematosus ◽

Genome Wide Association Study ◽

Age Of Onset ◽

Treatment Options ◽

Human Leukocyte ◽

Risk Scores ◽

Systemic Lupus ◽

Disease Manifestation ◽

A Genome

AbstractSystemic lupus erythematosus (SLE), a worldwide autoimmune disease with high heritability, shows differences in prevalence, severity and age of onset among different ancestral groups. Previous genetic studies have focused more on European populations, which appear to be the least affected. Consequently, the genetic variations that underlie the commonalities, differences and treatment options in SLE among ancestral groups have not been well elucidated. To address this, we undertake a genome-wide association study, increasing the sample size of Chinese populations to the level of existing European studies. Thirty-eight novel SLE-associated loci and incomplete sharing of genetic architecture are identified. In addition to the human leukocyte antigen (HLA) region, nine disease loci show clear ancestral differences and implicate antibody production as a potential mechanism for differences in disease manifestation. Polygenic risk scores perform significantly better when trained on ancestry-matched data sets. These analyses help to reveal the genetic basis for disparities in SLE among ancestral groups.

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ANALYSIS OF INTERFERON-I SIGNALING ACTIVITY IN CHILDREN WITH SYSTEMIC LUPUS ERYTHEMATOSUS: RESULTS OF A PILOT PROSPECTIVE STUDY

PEDIATRIA Journal named after G N SPERANSKY ◽

10.24110/0031-403x-2021-100-3-77-88 ◽

2021 ◽

Vol 100 (3) ◽

pp. 77-88

Author(s):

R.K. Raupov ◽

◽

E.N. Suspitsyn ◽

E.M. Kalashnikova ◽

R.C. Mulkidzhan ◽

...

Keyword(s):

Systemic Lupus Erythematosus ◽

Lupus Erythematosus ◽

Age Of Onset ◽

Negative Relationship ◽

Clinical Manifestations ◽

Type I ◽

Systemic Lupus ◽

Cold Urticaria ◽

Pediatric Department ◽

Interferon System

The interferon system (IFN) is a group of signaling molecules with antiviral, antitumor and antiproliferative effects. The most studied signaling pathway is mediated by IFN type I. Mutations of IFN-I-regulated genes are involved in the pathogenesis of systemic lupus erythematosus (SLE). Interferon index (IFN-I-index) – a quantitative indicator of the level of expression of IFN-Iregulated genes – is used to assess the activity of the interferon system. Objective of the study: to assess the level of the IFN-I index in children with SLE, as well as to compare the clinical and laboratory characteristics of patients with high and normal levels of the IFN-I-index. Materials and methods of research: 40 patients (girls – 83%, boys – 17%) under 18 years of age with SLE diagnosed in accordance to the SLICC 2012 criteria were included in a multicenter prospective open uncontrolled nonrandomized continuous study. The age of the patients was 15,2 (12,5 ; 16,7) years. All of them underwent examination and treatment in the Pediatric department № 3 at the clinic of the St. Petersburg State Pediatric Medical University and in the Pediatric department of the Almazov National Medical Research Center. The IFN-I index was determined by real-time PCR with a quantitative assessment of the expression of 5 genes induced by IFN-α and β. Results: aggravated family history of rheumatic diseases was noted in 8 patients: SLE – in 3 (8%), rheumatoid arthritis – in 3 (8%), cold urticaria – in 2 (5%). The average age of onset of the disease is 12 years. The most common clinical manifestations were lesions of the skin, joints, mucous membranes, central nervous system, kidney and fever. 31 patients (78%) had an increased IFN-I index. All cases of kidney failure were observed only in patients with a high IFN index (36% vs 0%, p=0,036). Patients with increased IFN-I-index had statistically significant increased levels of antinuclear (87% vs 56%, p=0,043) and rheumatoid factors (36% vs 0%, p=0,036), higher ECLAM index values (3,0 vs 1.0, p=0,048), ferritin levels (p=0,0008) and, as a consequence, the need for more intensive immunosuppressive therapy (using rituximab and cyclophosphamide) compared with patients with normal IFN-Iindex. A positive statistically significant correlation of the IFN-I index with male sex (r=0,41, p=0,008), nephritis (r=0,35, p=0,026), livedoid rash (r=0,38, p=0,017 ), Raynaud's phenomenon (r=0,37, p=0,018), high antinuclear factor (r=0,82, p=0,001), rheumatoid factor (r=0,654, p=0,011), antibodies to Sm antigen (r=0,57, p=0,034), as well as a negative relationship with anemia (r=–0,67, p=0,009). Conclusion: IFN-I-index can be considered as a surrogate biomarker of activity and prognosis of SLE. Further research is required to validate its diagnostic role.

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Cytokine mRNA Expression in the B/W Mouse Model of Systemic Lupus Erythematosus—Analyses of Strain, Gender, and Age Effects

Clinical Immunology and Immunopathology ◽

10.1006/clin.1997.4390 ◽

1997 ◽

Vol 84 (3) ◽

pp. 260-268 ◽

Cited By ~ 38

Author(s):

Robert W. McMurray ◽

Robert W. Hoffman ◽

Wanda Nelson ◽

Sara E. Walker

Keyword(s):

Systemic Lupus Erythematosus ◽

Mouse Model ◽

Mrna Expression ◽

Lupus Erythematosus ◽

Age Effects ◽

Systemic Lupus ◽

Cytokine Mrna ◽

Cytokine Mrna Expression ◽

Gender And Age

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Epileptic seizures and EEG features in juvenile systemic lupus erythematosus

Arquivos de Neuro-Psiquiatria ◽

10.1590/s0004-282x2008000400005 ◽

2008 ◽

Vol 66 (3a) ◽

pp. 468-470 ◽

Cited By ~ 5

Author(s):

Simone Carreiro Vieira-Karuta ◽

Izabella Celidônio Bertoldo Silva ◽

Paulo Breno Noronha Liberalesso ◽

Márcia Bandeira ◽

Loris Janz Jr ◽

...

Keyword(s):

Systemic Lupus Erythematosus ◽

Lupus Erythematosus ◽

Age Of Onset ◽

Epileptic Seizures ◽

Temporal Region ◽

Systemic Lupus ◽

Juvenile Systemic Lupus Erythematosus ◽

Epileptiform Discharges ◽

The Central Nervous System ◽

The Right

INTRODUCTION: Juvenile systemic lupus erythematosus is more incident in female affecting different systems including the central nervous system. The aim of this study was to check the incidence of seizures and electroencephalographic features in these patients. METHOD: It was analyzed all patients with juvenile systemic lupus erythematosus referred to the Pequeno Príncipe Hospital in Curitiba, PR, Brazil, in the year of 2007. The patients were submitted to EEG and subdivided into two groups according to the presence or absence of epileptic seizures. Mann-Whitney statistical test was used. RESULTS: Forty-nine cases were included, there were 73.45% female, with an age between 3 and 28 years (µ=17.00 years; s=5.01 years). Seizures (13/26.50%) were the most frequent manifestation followed by headache (13/26.50%) and ischemic stroke (6/12.25%). Cerebral vasculites were the most frequent alteration in neuroimage. The abnormalities of EEG were characterized by asymmetry of the electric cerebral activity, diffuse disorganized background activity, focal epileptiform discharges in the right central-temporal region, generalized paroxysmal of 3 Hz spike-waves, and bursts of theta-delta slowness activity in the right parietal-occiptal region. The statistic analysis showed no significantly difference between age of onset of symptoms and the risk of seizures (p 0.675) as well as between time of the disease and the risk of seizures (p 0.436). CONCLUSION: Neurologic manifestations, in special epileptic seizures, are frequent in systemic lupus erythematosus. Age of onset of symptoms and the time of disease did not increase the risk of epileptic seizures in this disease.

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Genome-wide assessment of genetic risk for systemic lupus erythematosus and disease severity

10.1101/614867 ◽

2019 ◽

Author(s):

Lingyan Chen ◽

Yong-Fei Wang ◽

Lu Liu ◽

Adrianna Bielowka ◽

Rahell Ahmed ◽

...

Keyword(s):

Systemic Lupus Erythematosus ◽

Renal Disease ◽

Disease Severity ◽

Lupus Erythematosus ◽

Genetic Risk ◽

Age Of Onset ◽

Genome Wide Association Studies ◽

Systemic Lupus ◽

Chinese Populations ◽

Genome Wide

AbstractObjectiveUsing three European and two Chinese genome-wide association studies (GWAS), we investigated the performance of genetic risk scores (GRS) for predicting the susceptibility and severity of Systemic lupus erythematosus (SLE), using renal disease as a proxy for severity.MethodsWe used four GWASs to test the performance of GRS both cross validating within the European population and between European and Chinese populations. The performance of GRS in SLE risk prediction was evaluated by Receiver Operating Characteristic (ROC) curves. We then analyzed the polygenic nature of SLE statistically. We also partitioned patients according to their age-of-onset and evaluated the predictability of GRS in disease severity in each age group.ResultsWe found consistently that the best GRS in the prediction of SLE used SNPs associated at the level of P<1e-05 in all GWAS datasets and that SNPs with P-values above 0.2 were inflated for SLE true positive signals. The GRS results in an area under the ROC curve ranging between 0.64 and 0.72, within European and between the European and Chinese populations. We further showed a significant positive correlation between a GRS and renal disease in two independent European GWAS (Pcohort1=2.44e-08; Pcohort2=0.00205) and a significant negative correlation with age of SLE onset (Pcohort1=1.76e-12; Pcohort2=0.00384). We found that the GRS performed better in prediction of renal disease in the ‘later onset’ compared to the ‘earlier onset’ group.ConclusionThe GRS predicts SLE in both European and Chinese populations and correlates with poorer prognostic factors: young age of onset and lupus nephritis.

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Childhood onset SLE- case report

Journal of Pediatrics & Neonatal Care ◽

10.15406/jpnc.2021.11.00440 ◽

2021 ◽

Vol 11 (3) ◽

pp. 32-33

Author(s):

Awal Alhusain ◽

Hasan Alhashim ◽

Wafa Almuraidif ◽

Mariam Alghazal ◽

Awal Alhusain ◽

...

Keyword(s):

Systemic Lupus Erythematosus ◽

Native Americans ◽

Lupus Erythematosus ◽

Age Of Onset ◽

Significant Morbidity ◽

Childhood Onset ◽

Systemic Lupus ◽

The Times ◽

Chronic Autoimmune Disease ◽

Children Under 5

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that can affect any organ and may result in significant morbidity and mortality. Childhood-onset c-SLE is a rare disease with an incidence of 0.3-0.9/100,000 children-years and a prevalence of 3.3-8.8/100,000 children.1 Asians, African American, Hispanic and Native Americans have higher frequency of the disease.2,3 Similar to adult SLE, c-SLE affects mainly females with around 80% of the affected children. According to the literature, the median age of onset is 11-12 years and it is rare in children under 5 years of age. The manifestations of c-SLE are variable and most of the times are atypical compared to adult SLE which make the diagnosis of cSLE a challenge to the treating physician.4 This report shows a series of presentation in pediatric patient who finally was diagnosed with SLE.

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Age-specific prevalence of diagnosed systemic lupus erythematosus in Germany 2002 and projection to 2030

Lupus ◽

10.1177/0961203314540352 ◽

2014 ◽

Vol 23 (13) ◽

pp. 1407-1411 ◽

Cited By ~ 24

Author(s):

R Brinks ◽

R Fischer-Betz ◽

O Sander ◽

J G Richter ◽

G Chehab ◽

...

Keyword(s):

Systemic Lupus Erythematosus ◽

Health Insurance ◽

Lupus Erythematosus ◽

Case Definition ◽

German Population ◽

Systemic Lupus ◽

Health Insurance Data ◽

Gender And Age ◽

Insurance Data ◽

Future Population

Objective The objective of this report is to estimate the prevalence and future number of cases of systemic lupus erythematosus (SLE) in Germany. Methods Data from a representative sample of all insurants from the statutory health insurance in Germany comprising more than 2.3 million individuals have been screened for SLE diagnoses. The gender- and age-specific prevalence of SLE is calculated. The case definition is based on at least one recorded diagnosis of SLE during 2002. The stratum-specific prevalence is applied to the current and the future population of Germany in order to estimate and predict the number of people with SLE until 2030. Results The overall prevalence of diagnosed SLE in 2002 was 15.4 (95% CI: 13.1–17.9) and 55.4 (51.4, 59.8) per 100,000 in the male and female German population. This corresponds to an estimated 30,000 and 31,000 people with diagnosed SLE in 2002 and 2010, respectively. This number will slightly increase until 2020 and decrease thereafter. Conclusions Compared with health insurance data from France, the prevalence in our data is similar. Under the assumption that the gender- and age-specific prevalence of SLE in Germany will not change considerably, the number of cases in the next two decades will change only slightly.

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