Cases Of Juvenile Systemic Lupus Erythematosus Research Articles

Serum ferritin level as a marker of disease activity and renal involvement in Egyptian children with juvenile systemic lupus erythematosus

IntroductionFerritin is an acute-phase reactant that is elevated in several autoimmune disorders. Serum ferritin levels have been correlated with disease activity scores of juvenile systemic lupus erythematosus (JSLE). Furthermore, enhanced levels of ferritin have also been described in lupus nephritis (LN). Aim of the workTo evaluate serum ferritin as a cheap and available marker of disease activity and renal involvement in Egyptian children with JSLE. Patients and methodsForty-eight JSLE cases recruited from the Pediatric Rheumatology Clinic in Cairo University Specialized Children’s Hospital and 43 matched healthy children were enrolled in the study. SLE disease activity score-2000 (SLEDAI-2K) and renal activity score were assessed. Serum levels of ferritin, was quantified by enzyme-linked immunosorbent assay. ResultsThe mean age of the patients was 12.6 ± 3.02 years and disease duration 3.4 ± 2.5 years. Serum ferritin significantly higher in patients (416.1 ± 1022.9 ng/ml) compared with control (36.1 ± 18.2 ng/ml) (p < 0.001). Serum ferritin was significantly higher in active (n = 20) (890.4 ± 1474.8 ng/ml) compared to inactive (n = 28) (77.4 ± 74.1 ng/ml) patients (p < 0.001). A significant correlation was found between serum ferritin with SLEDAI-2K (r = 0.35, p = 0.014), renal-SLEDAI-2K (r = 0.49, p < 0.001) and with renal activity score (r = 0.38, p = 0.008). A significant correlation was found between serum ferritin and anti-double stranded-DNA (r = 0.44, p = 0.002) and complement 3 (r = −0.42, p = 0.003). ConclusionSerum ferritin level can be considered a reliable biomarker for monitoring disease and renal activity in children with JSLE and LN. This may lead to improvement of management and consequently prognosis of JSLE patients as serum ferritin is an available and relatively cheap marker.

Juvenile and juvenile-onset systemic lupus erythematosus patients: Clinical characteristics, disease activity and damage

BackgroundThe diagnosis of systemic lupus erythematosus (SLE) in children is challenging. The heterogeneous manifestations and disease impact on the child’s growth highlight the importance of timely diagnosis and management. ObjectiveThe aim of the work was to assess and compare the clinical characteristics, disease activity and damage between children with juvenile SLE (JSLE) and adult patients with juvenile-onset (JO-SLE). Patients and methods78 SLE patients; 26 children (JSLE) and 52 JO-SLE adults were included in this study. Disease activity was assessed using the SLE Disease Activity Index (SLEDAI) and organ damage using the Systemic Lupus International Collaborating Clinics (SLICC) index. ResultsThe mean age of the JSLE children was 13.25±2.09years and 23.17±4.26years for JO-SLE cases. Age at disease-onset and female gender tended to be higher in JO-SLE cases than in children with JSLE. There was a significantly higher frequency of serositis, nephritis and hematological involvement in the JO-SLE (57.7%, 76.9%, 73.1%, respectively) compared to the JSLE cases (15.4%, 30.8%, 30.8%, respectively) (p<0.001 for all). The erythrocyte sedimentation rate, creatinine and proteinuria were significantly increased in JO-SLE while alkaline phosphatase was higher in JSLE cases. In JO-SLE cases, SLEDAI significantly increased (5.96±6.18 vs 3.12±1.97; p=0.003) and the SLICC tended to increase compared to the JSLE children. More JO-SLE cases received hydroxychloroquine and azathioprine. ConclusionThe existence of differences in clinical phenotype has been confirmed, between JSLE and JO-SLE especially as regards serositis, nephritis and heamatological affection. The disease damage was comparable which denotes that the maximum organ involvement occurs in childhood with an almost stationary course.

Juvenile systemic lupus erythematosus in Nigeria.

Juvenile systemic lupus erythematosus (JSLE) is a complex multisystemic autoimmune disorder of unknown cause. It accounts for about one in five cases of SLE. The tendency for SLE to run a fulminant course when it starts in childhood has made JSLE a potentially more severe disease than adult SLE. Reports of JSLE from sub-Saharan Africa are scanty in spite of the increasing reports of adult SLE. We conducted a 4-year retrospective study of JSLE cases seen at the Lagos State University Teaching Hospital between January 2010 and December 2014. Out of the 12 patients studied, eight were girls and four were boys. All patients had positive antinuclear antibody and extractable nuclear antibody tests. Anti-dsDNA antibody was positive in 10 patients. Eight patients had renal disease while four patients had neuropsychiatric manifestations. Haematological abnormalities and constitutional symptoms were present in all patients. Patients were treated with pulse methylprednisolone, oral prednisolone, hydroxychloroquine and azathioprine. Three patients also received rituximab. In conclusion, JSLE exists in Nigeria and exhibits clinical and immunological characteristics similar to its pattern in other parts of the world. It is, however, diagnosed late and is possibly being underdiagnosed as there is no paediatric rheumatologist in the country.

Interleukin-4 single nucleotide polymorphisms in juvenile systemic lupus erythematosus.

Juvenile systemic lupus erythematosus (JSLE) is a chronic, recurrent multisystem inflammatory disease, caused by a combination of environmental events and genetic risk factors. As cytokines, including interleukin-4 (IL-4), seem to have a role in the pathogenesis of JSLE, the investigation was performed to evaluate the associations of specific single nucleotide polymorphisms (SNPs) of IL-4 and IL-4RA genes in a case-control study. Fifty-nine patients with JSLE were recruited in this study as patients' group and compared with 140 healthy volunteers. Genotyping was performed for IL-4 gene at positions -1098, -590 and -33, as well as IL-4 receptor α (IL-4RA) gene at position +1902, using polymerase chain reaction with sequence-specific primers method. Following alleles were found to be more common among patients with JSLE: C at -590 and -33 and T at -1098 of IL-4 gene (P value < 0.001; OR = 4.6, P value < 0.001; OR = 2.7 and P value < 0.001; OR = 2.1, respectively). Additionally, significant positive associations for the following genotypes were recognized in JSLE cases, compared with controls: C/C at -33, C/C at -590 and T/T at -1098 of IL-4 gene (P value < 0.001; OR = 5.3, P value < 0.001; OR = 29.5 and P value < 0.001; OR = 3.3, respectively), while following genotypes were less frequent among patients with JSLE: T/C at -33 and -590 and T/G at -1098 of IL-4 gene (P value < 0.001; OR = 0.1, P value < 0.001; OR = 0.03 and P value < 0.001; OR = 0.3, respectively). Furthermore, we noticed an astonishing negative haplotypic association for JSLE for IL-4 (positions -1098, -509 and -33) TTC, GCC and TTT haplotypes (P value < 0.001). There was also a significant relationship between TCC haplotype (IL-4 gene at positions -1098, -590 and -33) and having JSLE (P value < 0.001). On the other hand, we found no significant associations between IL-4R polymorphisms and the susceptibility to JSLE. Cytokine gene polymorphisms may influence susceptibility to JSLE. Particular IL-4 gene variants are associated with JSLE and might have a role in the pathophysiology of disease.

Interleukin-6, interleukin-1 gene cluster and interleukin-1 receptor polymorphisms in Iranian patients with juvenile systemic lupus erythematosus.

Juvenile systemic lupus erythematosus (JSLE) is a polygenic, autoimmune disorder of unknown origin. As proinflammatory cytokines, including interleukin-6 (IL-6) and the interleukin-1 (IL-1) family, seem to contribute to the pathogenesis of JSLE, this investigation was performed to assess the associations of particular single nucleotide polymorphisms (SNPs) of IL-6 and IL-1 genes in a case-control study. Fifty nine JSLE cases were recruited for this study as the patient group, and were compared against 140 healthy, unrelated, control subjects. Using the polymerase chain reaction with the sequence-specific primer method, genotyping was carried out for the IL-6 gene at positions -174 and nt565, as well as the IL-1α gene at position -889, the IL-1β gene at positions -511 and +3962, the interleukin-1 receptor (IL-1R) gene at position Pst-I 1970, and the interleukin-1 receptor antagonist (IL-1Ra) gene at position Mspa-I 11100. RESULTS of the analyzed data revealed a remarkable, positive association for the promoter sequence of the IL-1β gene at position -511 for T/T in the patient group compared with healthy controls (P value, 0.03). Furthermore, a significant negative association was found between the T/C genotype at the same position on the IL-1β gene in juvenile SLE (P value, 0.03). cytokine gene polymorphisms might play a role in the pathophysiology of JSLE. Particular IL-1 gene variants could affect individual susceptibility to JSLE.

Púrpura trombocitopênica trombótica na apresentação de pacientes com lúpus eritematoso sistêmico juvenil

Púrpura trombocitopênica trombótica (PTT) é uma alteração hematológica rara e com risco de morte, caracterizada por trombocitopenia, anemia hemolítica microangiopática e alterações neurológicas e/ou renais. A PTT foi descrita em raros pacientes com lúpus eritematoso sistêmico juvenil (LESJ) e, até onde se sabe, a prevalência dessa manifestação em uma população de lúpus pediátrico ainda não foi estudada. Assim, entre janeiro de 1983 e dezembro de 2010, revisamos os prontuários de 5.508 pacientes acompanhados na Unidade de Reumatologia Pediátrica do nosso hospital universitário. Foram identificados 279 (5,1%) casos de LESJ que preencheram os critérios de classificação do American College of Rheumatology. Dois destes (0,7%) apresentavam PTT, ambos no início do LESJ, e foram aqui descritos. Os dois pacientes tinham febre, anemia hemolítica microangiopática (com esquizócitos no sangue periférico) e trombocitopenia. O paciente do gênero masculino apresentava hemiparesia e proteinúria, e a paciente do gênero feminino tinha cefaleia persistente e hematúria. Ambos foram tratados com metilprednisolona endovenosa e plasmaferese quando do diagnóstico de PPT. Após tratamento, não houve recidiva da PTT, e hematócritos, contagens de plaquetas e níveis de desidrogenase lática permaneceram normais. Em conclusão, a PTT é uma rara e grave manifestação no início do LESJ. Os casos relatados reforçam a importância de um diagnóstico precoce e de uma terapia agressiva em pacientes com PTT, devido à sua alta morbidade.

Thrombotic thrombocytopenic purpura at presentation of juvenile systemic lupus erythematosus patients

Thrombotic thrombocytopenic purpura (TTP) is a rare and life-threatening hematological abnormality characterized by thrombocytopenia and microangiopathic hemolytic anemia, with neurological abnormalities and/or renal disease. TTP has been rarely reported in juvenile systemic lupus erythematosus (JSLE) patients and, to our knowledge, its prevalence in a paediatric lupus population has not been studied. Therefore, from January 1983 to December 2010, we reviewed the charts of 5,508 patients followed-up at the Paediatric Rheumatology Unit of our university hospital. We identified 279 (5.1%) JSLE cases that met the American College of Rheumatology classification criteria. Two (0.7%) of them had TTP, both at JSLE onset, and were described herein. Both patients had fever, microangiopathic hemolytic anemia (with schistocytes in blood smears), and thrombocytopenia. The male patient had hemiparesis and proteinuria and the female patient had persistent headache and hematuria. Both were treated with intravenous methylprednisolone and courses of plasma exchange therapy at TTP diagnosis. After treatment, TTP did not recur and their hematocrit, platelet count, and lactic dehydrogenase remained normal. In conclusion, TTP is a rare and severe manifestation at JSLE onset. The case reports reinforce the importance of early diagnosis and early aggressive treatment for patients with TTP, due to its high morbidity.

FDG-PET in juvenile systemic lupus erythematosus

Psychiatric manifestations in juvenile systemic lupus erythematosus (JSLE) are not uncommon, and they often pose diagnostic and therapeutic challenges. Magnetic resonance imaging (MRI) of the brain is often without abnormalities. Fluorodeoxyglucose positron emission tomography (FDG PET) detects relative reductions in regional cerebral glucose metabolism, and has been suggested as a more sensitive diagnostic tool. We describe two cases of JSLE with CNS involvement and distinct psychiatric symptoms, in which FDG PET showed, marked metabolic disturbances that normalized with successful treatment.

Clinical presentations and outcomes of Filipino juvenile systemic lupus erythematosus

ObjectiveJuvenile Systemic Lupus Erythematosus (SLE) varies by location and ethnicity. This study describes the clinical, laboratory profile and outcome of juvenile SLE seen at Philippine General Hospital (PGH) from 2004-2008.MethodMedical charts of all Filipino Juvenile SLE cases admitted at PGH during the 5-year period were reviewed collecting demographic profile, clinical and laboratory manifestations and treatment during disease course.ResultsSeventy-eight cases of juvenile SLE were reviewed. There were 7 boys and 71 girls. The mean age at diagnosis was 14 years (SD 2.7) with a range of 8-18 years. Fever (52.5%) and malar rash (41.0%) were the most common features at disease onset. At the time of diagnosis, the most common features were malar rash (65.3%), renal involvement (62.8%) and photosensitivity (55.1%). Mucocutaneous (92.3%), renal (71.7%) and hematologic (69.2%) involvement were the most common features during the entire course of illness. Infection (34.5%) and neurologic (19.0%) complications were observed most frequently. Corticocosteroid treatment was given in most of the patients in the form of prednisone (97.4%) and concomitant methylprednisolone intravenous pulses (29.4%). Nine patients died during the study period. The overall 5-year mortality rate was 11.5%. Infection (77.0%) was the most frequent cause of death.ConclusionMalar rash was a common feature at disease onset and at diagnosis among Filipinos with juvenile SLE. Throughout the disease course, renal involvement occurs in 71.7% of patients. Infection was the leading cause of complication and death. The clinical presentations of Filipinos with juvenile SLE were similar to juvenile SLE in other countries.

Scaly Ear Rash as the Herald of a Young Girl with Juvenile Systemic Lupus Erythematosus

Juvenile systemic lupus erythematosus (JSLE) is an autoimmune-mediated multiorgan disease. The cutaneous manifestation is one of the most common initial presentations in JSLE. A typical lesion is a facial malar rash, but a patient may sometimes present with nonclassical lesions. Herein, we report two cases of JSLE with similar persistent scaly ear rashes as the heralding cutaneous symptom preceding systemic symptoms. Identifying this atypical and underestimated cutaneous rash in juvenile patients might help the clinician make the correct diagnosis and provide earlier intervention, which may help prevent disease progression.

P41 Anticyclic citrullinated peptide antibodies in juvenile idiopathic arthritis—Chennai study

The diagnosis of systemic lupus erythematosus (SLE) in children is challenging. The heterogeneous manifestations and disease impact on the child’s growth highlight the importance of timely diagnosis and management.The aim of the work was to assess and compare the clinical characteristics, disease activity and damage between children with juvenile SLE (JSLE) and adult patients with juvenile-onset (JO-SLE).78 SLE patients; 26 children (JSLE) and 52 JO-SLE adults were included in this study. Disease activity was assessed using the SLE Disease Activity Index (SLEDAI) and organ damage using the Systemic Lupus International Collaborating Clinics (SLICC) index.The mean age of the JSLE children was 13.25 ± 2.09 years and 23.17 ± 4.26 years for JO-SLE cases. Age at disease-onset and female gender tended to be higher in JO-SLE cases than in children with JSLE. There was a significantly higher frequency of serositis, nephritis and hematological involvement in the JO-SLE (57.7%, 76.9%, 73.1%, respectively) compared to the JSLE cases (15.4%, 30.8%, 30.8%, respectively) (p < 0.001 for all). The erythrocyte sedimentation rate, creatinine and proteinuria were significantly increased in JO-SLE while alkaline phosphatase was higher in JSLE cases. In JO-SLE cases, SLEDAI significantly increased (5.96 ± 6.18 vs 3.12 ± 1.97; p = 0.003) and the SLICC tended to increase compared to the JSLE children. More JO-SLE cases received hydroxychloroquine and azathioprine.The existence of differences in clinical phenotype has been confirmed, between JSLE and JO-SLE especially as regards serositis, nephritis and heamatological affection. The disease damage was comparable which denotes that the maximum organ involvement occurs in childhood with an almost stationary course.