Paediatric rheumatic diseases (PRD) form a group of (rare) diseases that can lead to significant morbidity. Evidence-based guidelines are sparse and treatment regimens differ throughout Europe. In 2012, a European initiative called SHARE (Single Hub and Access point for pediatric Rheumatology in Europe) was granted by the European Agency for Health and Consumers (project number 2011 1202) to optimize and disseminate diagnostic and management regimens in Europe for children with PRD.

BackgroundGranulomatosis with polyangiitis (GPA), formerly known as Wegener’s granulomatosis (WG), belongs to the group of ANCA-associated necrotizing vasculitides. This study describes the clinical picture of the disease in a large cohort of GPA paediatric patients.Children with age at diagnosis ≤ 18 years, fulfilling the EULAR/PRINTO/PRES GPA/WG classification criteria were extracted from the PRINTO vasculitis database. The clinical signs/symptoms and laboratory features were analysed before or at the time of diagnosis and at least 3 months thereafter and compared with other paediatric and adult case series (>50 patients) derived from the literature.FindingsThe 56 children with GPA/WG were predominantly females (68%) and Caucasians (82%) with a median age at disease onset of 11.7 years, and a median delay in diagnosis of 4.2 months. The most frequent organ systems involved before/at the time of diagnosis were ears, nose, throat (91%), constitutional (malaise, fever, weight loss) (89%), respiratory (79%), mucosa and skin (64%), musculoskeletal (59%), and eye (35%), 67% were ANCA-PR3 positive, while haematuria/proteinuria was present in > 50% of the children. In adult series, the frequency of female involvement ranged from 29% to 50% with lower frequencies of constitutional (fever, weight loss), ears, nose, throat (oral/nasal ulceration, otitis/aural discharge), respiratory (tracheal/endobronchial stenosis/obstruction), laboratory involvement and higher frequency of conductive hearing loss than in this paediatric series.ConclusionsPaediatric patients compared to adults with GPA/WG have similar pattern of clinical manifestations but different frequencies of organ involvement.

800x600 Abstract Macrophage activation syndrome (MAS) is a life-threatening complication of systemic juvenile idiopathic arthritis (SJIA). MAS is characterized by systemic inflammation caused by excessive or uncontrolled release of proinflammatory cytokines (cytokine storm). The diagnostic hallmark are hemophagocytic macrophages, that could be present in bone marrow, liver, spleen or lymph nodes. Clinical features are similar to a flare of the underlying rheumatic disease which makes early recognition and choice of the appropriate treatment difficult. Diagnosis is made according to the preliminary diagnostic guidelines for MAS complicating SJIA. We report a case of an 11 years old girl with MAS as an initial presentation of SJIA. She was successfully treated with high doses of glucocorticoid and cyclosporine. After discontinuation of glucocorticoid therapy she developed a new flare of the disease which was successfully treated with interleukin 1 blocking agent anakinra.

Systemic capillary leak syndrome is a rare condition, characterized by hypotension, edema, hemoconcentration and hypoalbuminemia. We describe 2 episodes of systemic capillary leak syndrome, following influenza A virus infection, occurring during 2 subsequent influenza seasons, in an 8-year-old boy.

Dysregulation of many inflammatory cytokines, utilizing STAT signaling pathways, has been found as important contributor in initiation, progression and maintenance of inflammation in patients with Systemic Lupus Erythematosus (SLE). FoxP3+CD4+ regulatory T cells (Tregs) are important mediators of peripheral immune tolerance and their perturbed homeostasis, including expansion of CD45RA-FoxP3lo non-Treg subpopulation was reported in adult patients with SLE. Type I and II interferons (IFN I and IFN II), which are implicated in SLE pathogenesis, were shown to perturb Treg homeostasis. Many IFN regulated genes are dependent on STAT1 for optimal transcription, and STAT1 protein expression is under control of IFNs.

Data regarding the safety and efficacy of treatment regimens for juvenile dermatomyositis (JDM) tends to be from anecdotal, small, uncontrolled, non-randomized case series.

Cervical spine arthritis is a well-recognized complication of juvenile idiopathic arthritis (JIA). It is usually present in patients with more severe disease.

Factors that would predict treatment outcome for methotrexate (MTX) would be of great value to clinicians. Recent pharmacogenetic studies have reported associations between single nucleotide polymorphisms (SNP) in MTX transporters and treatment outcome in childhood acute lymphoblastic leukemia and in rheumatoid arthritis.

The conduct of Clinical Research in rare diseases, such as Juvenile Systemic Sclerosis (jssc) and Juvenile Localized Scleroderma (JLS), requires an adequate number of patients and a fruitful collaboration between international centers. The clinical management of young patients suffering from these diseases is also often difficult to achieve in an effective and shared matter.

The antiphospholipid antibody syndrome (APS) is a multisystemic autoimmune disease characterized by thromboembolic events, pregnancy morbidity, hematologic, dermatologic, neurologic and other manifestations in the presence of elevated titers of antiphospholipid antibodies (aPL). In recent years, APS has been increasingly recognized in various pediatric autoimmune and nonautoimmune diseases, but the relatively low prevalence and heterogeneity of APS in childhood made it very difficult to study in a systematic way.

Catatonia is a rarely reviewed clinical feature of neuropsychiatric (NP) manifestation of pediatric systemic lupus erythematosus (pSLE). It is a state of neurogenic motor immobility, and behavioral abnormality manifested by stupor.

Takayasu arteritis (TA) is a rare chronic granulomatous vasculitis of large vessels. Initial symptoms and signs are usually non-specific, therefore a high index of suspicion is needed to make a timely and correct diagnosis.