Background: The optimal therapy for lupus nephritis (LN), including the role of cyclosporine (CsA), still lacks scientifically valid clinical experience. We evaluated the efficacy of CsA in the induction and maintenance treatment of patients with biopsy-proven LN. Patients and Methods: A total of 31 patients (25 women, 6 men, mean age 29.5 years) were enrolled in the study. The majority had proliferative LN. The mean follow-up was 85.6 ± 24.7 months. Results: CsA was used as first-line treatment in 38.7% of patients and as second-line treatment in 61.3% of patients. Complete remission was achieved in 93.5% of patients. The relapse rate was 45.2%. The mean disease-free interval was 33 months. At the end of follow-up, a total of 67.9% of the patients were in remission. The treatment led to significant improvement in proteinuria (p = 0.001) and stabilization of renal function. Conclusion: CsA might be an appropriate and a less toxic alternative drug for LN both as a first-choice and rescue therapy.

Background: Muckle-Wells syndrome (MWS) represents a moderate phenotype of cryopyrinopathies. Sensorineural hearing loss and AA amyloidosis belong to the most severe manifestations of uncontrolled disease. Simultaneous discovery of MWS in four generations of one large kindred has enabled us to document natural evolution of untreated disease and their response to targeted therapy. Methods: A retrospective case study, clinical assessment at the time of diagnosis and 2-year prospective follow-up using standardized disease assessments were combined. Results: Collaborative effort of primary care physicians and pediatric and adult specialists led to identification of 11 individuals with MWS within one family. Presence of p.Ala441Val mutation was confirmed. The mildest phenotype of young children suffering with recurrent rash surprised by normal blood tests and absence of fevers. Young adults all presented with fevers, rash, conjunctivitis, and arthralgia/arthritis with raised inflammatory markers. Two patients aged over 50 years suffered with hearing loss and AA amyloidosis. IL-1 blockade induced disease remission in all individuals while hearing mildly improved or remained stable in affected patients as did renal function in one surviving individual with amyloidosis. Conclusions: We have shown that severity of MWS symptoms gradually increased with age toward distinct generation-specific phenotypes. A uniform trajectory of disease evolution has encouraged us to postpone institution of IL-1 blockade in affected oligosymptomatic children. This report illustrates importance of close interdisciplinary collaboration.

ObjectiveAnakinra has been increasingly used in off-label indications as well as dosing and mode of administration in a variety of inflammatory conditions. We aimed to review our clinical practice and compare treatment outcomes with published data.MethodsClinical data from electronic records were retrospectively reviewed for patients treated with anakinra over the past 6 years for autoinflammatory diseases (AID).ResultsFrom 47 eligible patients (27 female patients), 32 were children. Macrophage activation syndrome (MAS) was the indication for anakinra therapy in 42.6% of patients. Systemic juvenile idiopathic arthritis (SJIA) was the most common underlying diagnosis (19/47) followed by the spectrum of AID. Off-label use was noted in 38.3% patients. Recommended dose was exceeded in 21 children (mean induction dose 5.1, highest dose 29.4 mg/kg/day) and two adults; five patients were treated intravenously. The mean treatment duration for SJIA was 1.4 years, that for AID was 2.2 years, and that for patients with higher anakinra dose was 9.7 (19.3) months. The mean follow-up duration was 2.7 (1.7) years. Treatment was effective in the majority of SJIA and cryopyrinopathy patients as well as those with MAS. Anakinra was well-tolerated without any major adverse effects even in patients with long-term administration of higher than recommended doses including two infants treated with a dose of over 20 mg/kg/day.ConclusionOur results support early use of anakinra in the individually tailored dosing. In patients with hyperinflammation, anakinra may be lifesaving and may even allow for corticosteroid avoidance. Further studies are needed in order to set up generally accepted response parameters and define condition-specific optimal dosing regimen.

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Background/Purpose: Granulomatosis with polyangiitis is a rare primary systemic vasculitis affecting small blood vessels with predilection for the respiratory tract and kidneys. We describe clinical outcome of a small patient cohort as captured by the recently developed tools the Paediatric Vasculitis Activity Score (PVAS) and the Paediatric Vasculitis Damage Index (PVDI). Methods: A retrospective and prospective analysis of data gathered from 2006 to 2013 on patients fulfilling the EULAR/PRINTO/PRES criteria for GPA. Disease activity and damage items have been systematically recorded, data from the time of diagnosis and from the last follow‐up (F/U) are presented. Results: Characteristics of the 6 girls identified are summarized in the . The median F/U was 4 years. Disease manifestations were recorded under PVAS and PVDI sections with 6/9 and 8/10 systems affected with active disease or damage, respectively. General, ENT and pulmonary manifestations were observed in 4/6 patients. Nephritis developed in 2/6 patients. Cumulative damage was noted in all cases with ENT region most commonly affected. Persistent remission was achieved in one case with limited disease, in the other one subglottic stenosis caused an episode of airway obstruction and cerebral ischemia leading to apalic syndrome and later to death. Clinical inactivity on treatment was achieved in 2 girls. Patient characteristics Patient123456Age at onset (years)141413121514F/U (years)525530.2ANCA Atypical IFc‐ANCAp‐ANCAAtypical IFc‐ANCAc‐ANCATreatmentCS, CP, MMFCS, MTXCS, MTXCS, MTX, CP, AZACS, CP, MMF, RTXCS, CP, RTXPVAS category (section score)OnsetF/UOnsetF/UOnsetF/UOnsetF/UOnsetF/UOnsetF/UGeneral00301000302N/ACutaneous00000000305N/AMucous memb./Eyes00006020000N/AENT00600060406N/AChest30000060606N/ARenal1240000001200N/APVAS total154907014028019N/APVDI category (section score)OnsetF/UOnsetF/UOnsetF/UOnsetF/UOnsetF/UOnsetF/UMusculoskeletal00000000020N/ASkin/Mucous memb.00000001001N/AOcular00000101000N/AENT00030102011N/AChest00000003011N/ARenal01000000010N/ANervous system00000002000N/AOther01010003001N/APVDI total020402012054N/AF/U–follow‐up, N/A‐non–available, CS‐Corticosteroids, CP‐Cyclophosphamide, MTX‐Methotrexate, MMFMycophenolate mofetil, AZA‐Azathioprine, RTX‐Rituximab Conclusion: This small series of patients illustrates a variety of GPA outcomes. A standardized scoring of disease activity and damage enables systematic patient F/U and drives appropriate treatment decision‐making.