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Autoimmune rheumatic diseases have their own specific clinical presentation, and can affect multiple systems. Neurological involvement of autoimmune rheumatic diseases may involve both the central and peripheral nervous systems. Inflammation of neural tissue, autoantibody-mediated reactions, and small vessel vasculitis may be effective in the pathogenesis of neuropathy in autoimmune rheumatological diseases. Autoimmune rheumatic disease with pure motor neuron involvement is very rare in the literature. The case is here presented of a 58-year-old female patient who presented with the complaints of increasing pain and weakness in the extremities and was diagnosed with lower motor neuron disease and overlap syndrome. The patient was treated with cyclophosphamide, pulse steroid, hydroxychloroquine and intravenous immunoglobulin. After 3 months of treatment, a significant improvement was observed in the patient's clinical complaints and laboratory parameters. In conclusion, some patients with undiagnosed autoimmune rheumatic diseases may have neurological complaints. Clinicians should investigate patients with such neurological complaints for autoimmune rheumatic diseases.

To compare the effectiveness of ultrasound-guided genicular nerve block (GNB) and physical therapy (PT) in patients with chronic knee osteoarthritis. A prospective randomised study with 102 patients (45–70 years) was performed wherein the patients received ultrasound-guided GNB (n = 51) and PT (n = 51) along with a standard home exercise programme. Scores for pain on a Visual Analogue Scale (VAS), Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) and 6-min walking test (6MWT) were assessed pre-treatment and at 2- and 12-weeks post-treatment. Both groups were comparable for sociodemographic characteristics. VAS scores (in mm) in the ultrasound-guided GNB group at 0, 2 and 12 weeks were 7.01 ± 1.36; 3.71 ± 2.18; 5.08 ± 2.22 (p < 0.001) and 6.64 ± 1.99; 4.35 ± 1.09; 5.25 ± 1.33, (p < 0.001) in the PT group. While the increase in the 6MWT test in the 2nd week was similar for both groups (p = 0.073), the increase in walking distance was greater in the ultrasound-guided GNB group at 12 weeks (p = 0.046). As compared to PT, ultrasound-guided GNB is beneficial in reducing pain and increasing functional and physical capacity, with greater retention of effects on the physical capacity seen at 12 weeks. Trial registration number: ClinicalTrials.gov (NCT04782401).

Juvenile idiopathic arthritis (JIA) is a heterogeneous group of idiopathic inflammatory arthritis affecting children younger than 16 years of age. Tocilizumab (TCZ) is a humanized anti-interleukin 6 (IL-6) receptor antibody that was approved for systemic and polyarticular JIA patients. However, the studies regarding patients’ satisfaction while receiving TCZ therapy is scarce. Herein, we aimed to evaluate the effect of subcutaneous (SC) TCZ administration on patient satisfaction and disease control of JIA patients. All JIA patients receiving TCZ were included in the study. Clinical features, laboratory findings and JADAS71 scores were recorded at baseline and every 3 months during follow-up. Nine of the patients on intravenous (IV) TCZ treatment were switched to SC form. All patients receiving TCZ-SC were questioned by a clinical nurse specialist (CNS) to assess patient satisfaction. A total of 39 patients receiving TCZ were included in the study. Among them, treatment of nine patients (five female, four male) was switched to SC form with a median of 11.5 (8–69) months after initiation of TCZ. Patients were stable both clinically and in laboratory means at the 3rd month of TCZ-SC treatment. There was no deterioration in terms of active joint counts, physician’s VAS, patient’s VAS and JADAS71. According to patient satisfaction questionnaire, eight of the patients felt satisfied with SC administrations in terms of life quality, school success and reduced school absenteeism. However, one patient did not agree that the SC form is as effective as IV form and wanted to continue with IV form. TCZ is an effective treatment option in JIA and switching from IV to SC route when necessary is found to be an effective and acceptable alternative by the patients as well.

This study aimed to detect patients’ characteristics who suffered severe and critical COVID-19 pneumonia admitted to the post-acute COVID-19 rehabilitation clinic in Ankara City Hospital, Physical Medicine and Rehabilitation Hospital and to share our experiences and outcomes of rehabilitation programmes applied. This study was designed as a single-centre, retrospective, observational study. Severe and critical COVID-19 patients, admitted to the post-acute COVID-19 rehabilitation clinic, were included in patient-based rehabilitation programmes, targeting neuromuscular and respiratory recovery. Functional status, oxygen (O2) requirement and daily living activities were assessed before and after rehabilitation. Eighty-five patients, of which 74% were male, were analysed, with the mean age of 58.27 ± 11.13 and mean body mass index of 25.29 ± 4.81 kg/m2. The most prevalent comorbidities were hypertension (49.4%) and diabetes mellitus (34.1%). Of the 85 patients, 84 received antiviral drugs, 81 low-molecular-weight heparin, 71 corticosteroids, 11 anakinra, 4 tocilizumab, 16 intravenous immunoglobulin and 6 plasmapheresis. 78.8% of the patients were admitted to the intensive care unit, with a mean length of stay of 19.41 ± 18.99 days, while those who needed O2 support with mechanic ventilation was 36.1%. Neurological complications, including Guillain–Barre syndrome, critical illness-related myopathy/neuropathy, cerebrovascular disease and steroid myopathy, were observed in 39 patients. On initial functional statuses, 55.3% were bedridden, 22.4% in wheelchair level and 20% mobilised with O2 support. After rehabilitation, these ratios were 2.4%, 4.7% and 8.2%, respectively. During admission, 71 (83.5%) patients required O2 support, but decreased to 7 (8.2%) post-rehabilitation. Barthel Index improved statistically from 44.82 ± 27.31 to 88.47 ± 17.56. Patient-based modulated rehabilitation programmes are highly effective in severe and critical COVID-19 complications, providing satisfactory well-being in daily living activities.

The objective of the study is to investigate the clinical characteristics and long-term prognosis including flares and organ damage in patients with giant cell arteritis (GCA) from a tertiary referral centre and compare these features in different subgroups. In this retrospective observational study, patients with GCA who were followed up in our vasculitis clinic between 1998 and 2018 were evaluated by a predefined protocol. Patients with and without cranial symptoms were compared for clinical and laboratory features, flares and permanent damage findings. Vasculitis Damage Index and Large Vessel Vasculitis Index of Damage were used for damage assessment. Records of 89 patients (median follow-up time 46 months) were analysed; mean time to diagnosis after initial symptom was longer in patients with acute vision loss (11 ± 4 vs. 4.8 ± 1.1 months p = 0.002). EGG (n = 19) was younger (63 ± 2 vs. 69 ± 1 years old p = 0.01); had higher mean CRP (141.8 ± 107.3 vs. 76.6 ± 67.9 mg/dL p = 0.023) and ESR (120.8 ± 25.1 vs. 99.3 ± 24.3 mm/h p = 0.004) at diagnosis. PET-CT detected large vessel vasculitis in 42/48 (87.5%) cases of the entire cohort. Thirty-one patients had flares and proportion of flared patients was significantly higher in patients with cranial symptoms. At least one damage item (DI) was present in 54 (60.7%) patients. The development of damage was found to be associated with flares. Evaluation of our cohort revealed the importance of early diagnosis for prevention of vision loss in GCA. Patients without cranial symptoms were younger, present with higher inflammatory response and for these, PET-CT was the main diagnostic tool. Relapse rate was higher in patients with cranial symptoms. Flares and accompanying corticosteroid treatment may contribute to organ damage in GCA.

Systemic lupus erythematosus (SLE) is a complex, chronic, multi-systemic autoimmune disease, characterized by miscellaneous clinical findings. Castleman disease (CD) is a rare lymphoproliferative disorder that may present with systemic symptoms. Herein, a SLE case complicated with CD is reported by comparing her clinical findings with previously reported patients. We reviewed the literature regarding cases of "Castleman disease" and "Systemic lupus erythematosus" by searching medical journal databases in MEDLINE, EMBASE, Scopus, and Web of Science. A case of a 16-year-old girl with SLE who had intraabdominal lymphadenopathy detected both by ultrasonography and abdominal magnetic resonance imaging is presented. The excision of the lymph node was performed by pediatric surgeons. Histopathological examination was compatible with CD. Hydroxychloroquine and steroid treatments were started after the operation. She achieved remission in 3 months. In the literature research, we found 10 articles describing 17 patients. To our best of knowledge, the presented case was the third pediatric case in the literature with SLE and coexistent CD. This case report and literature review suggests that CD should be considered while evaluating and following patients with autoimmune diseases.

The primary aim of the treatment of juvenile idiopathic arthritis (JIA) is complete remission and minimizing the development of complications. Though biologic agents (BAs) provide better disease control, data related to BA switching patterns in JIA patients are scarce. This study aimed to determine the BA switching patterns in JIA patients. The study included children with JIA that received ≥ 1 BAs. Disease activity was evaluated based on the juvenile arthritis disease activity score 71 (JADAS71). Demographic data, clinical and laboratory findings, BA switching patterns, and the rationales for BA switching were recorded. The study included 177 (82 female and 95 male) JIA patients that received ≥ 1 BAs. Mean age at diagnosis of JIA was 9.1 ± 4.9 years. BAs were prescribed a median of 14 months (range: 3–66 months) after diagnosis. Among the 177 patients, 31 (17.5%) required BA switching a median 10.5 months (range: 3–38 months) after initiation of the first BA. Among all the BAs that were switched to after administration of the first BA, tocilizumab was the most commonly switched (n = 15). The most common reason for BA switching was inadequate response (n = 29). BAs were switched 2 times in 5 patients and 3 times in 1 patient. When patients that switched BAs 1 time were compared to those that switched 2 and 3 times there were not any differences in terms of JIA types, whereas those that switched 2 and 3 times had a higher active joint count and JADAS71 score after 6 months of initiation of the first BA. As some of the JIA patients could not achieve remission despite using the prescribed BA, BA switching was required. Herein, we provide data on both BA switching patterns and requirements, which may improve the management of JIA patients.

To evaluate the vaccine response of treatment-naive juvenile idiopathic arthritis (JIA) patients who were fully vaccinated against Hepatitis B Virus (HBV) and then compare their antibody status with healthy controls. In this multicenter study, initial visit hepatitis B surface antigen (HbsAg) and anti-hepatitis B surface antibody (anti-Hbs) titers of 262 treatment-naive JIA patients who were followed up regularly between May 2015 and October 2019 were evaluated retrospectively from patients’ medical records and compared with 276 healthy peers. Both HbsAg and anti-Hbs antibody titers were tested by the ELISA technique. Anti-HBs titers ≥ 10 IU/L were considered as reactive indicating seroprotection against HBV. In the JIA group, seropositivity rate was 59.1% while 72.9% of the control group were immune against HBV (p = 0.002). The median titer for anti-Hbs was 14 (range: 0–1000) IU/L in the patient group and 43.3 (range: 0–1000) IU/L in the control group (p = 0.01). Neither JIA patients nor healthy controls were positive for HbsAg. Patients with JIA vaccinated according to the national vaccination schedule were evaluated at their first visit in pediatric rheumatology outpatient clinics for anti-Hbs presence and it was found that they have lesser seroprotectivity than their age and sex-matched routinely vaccinated, healthy peers. So, to complete missing vaccines and booster vaccine doses, assessing the immune status of the patients at the time of diagnosis against HBV should be in the check-list of physicians dealing with pediatric rheumatic diseases.

Since the Syrian civil war in 2011, an estimated number of 3.6 million Syrian refugees crossed into Turkey, and almost half of them were children. The distribution of rheumatic diseases in Syrian refugee children is not known. The aim of this study was to describe the profile of rheumatic diseases in Syrian refugee children living in Turkey. The demographic data, clinical and laboratory findings, medications, complications and outcome results of Syrian refugee children who had visited Pediatric Rheumatology Departments of University of Health Science Kanuni Sultan Süleyman Research and Training Hospital, Ümraniye Research and Training Hospital, Şanlıurfa Research and Training Hospital, and Cengiz Gökçek Maternity and Gynecology Hospital between April 1, 2011, and September 1, 2019, were evaluated retrospectively. A total of 151 patients were included in the study. Among them, 51 patients had juvenile idiopathic arthritis (JIA), 49 had familial Mediterranean fever (FMF), 43 had vasculitis, and 8 had connective tissue diseases. Homozygous M694V mutation was the most common mutation among FMF patients. Oligoarticular JIA (41.2%) was the most frequent type of JIA, and enthesitis-related arthritis (ERA) (27.5%) was the second one. The frequency of systemic JIA was 11.8%. One patient with SLE died due to complicated meningitis. This is the first study evaluating the distribution of rheumatic diseases in Syrian refugee children. Clinical follow-up of rheumatologic diseases is difficult in Syrian refugees due to language barriers, social and cultural differences. Health care systems should be well organized to provide appropriate care to asylum seekers.

Parenteral treatments (either subcutaneous or intravenous) are frequently used in rheumatology practice. In this study, drug side effects in patients who were followed up with a rheumatic disease and treated with parenteral administration methods were evaluated. The drug side effects in children who were followed up with a rheumatic disease and treated with parenteral treatments between 2010 and 2019 were recorded, retrospectively. All parenteral treatments are applied by a clinical nurse specialist (CNS) who is experienced in pediatric rheumatology for 10 years. Four hundred and thirteen patients were evaluated in this study. The mean age was 12.09 ± 5.05 years. Most of them were diagnosed with juvenile idiopathic arthritis (n = 317) and colchicine-resistant familial Mediterranean fever (n = 57). Among the patients, 287 was treated with methotrexate, 130 with etanercept, 90 with adalimumab, 71 with anakinra, 64 with canakinumab, 55 with tocilizumab, seven with rituximab, six with infliximab, and four with abatacept. Two of the patients had a history of drug allergy (ceftriaxone = 1, ranitidine = 1). The most common adverse reactions were as follows: nausea-vomiting in 52, rash in 11, itching in three, chest tightening in two, bruising in two, headache in two, and abdominal pain in one of the patients. Drug side effects were observed after an average of three (1-4) administrations. Antihistaminic and steroids (tocilizumab = 3, infliximab = 1, methotrexate = 1) were administered to five patients due to hypersensitivity reactions. Considering the possible side effects and preparation protocols of parenteral treatments, experienced physicians and nurses are required in the field.

Juvenile idiopathic arthritis is the most common chronic rheumatic disease of childhood resulting in disability in untreated cases. Disease modifying anti-rheumatic drugs form the first-line treatment in JIA. However, the data about leflunomide (LFN) in treatment of JIA is limited. We reviewed the medical files of JIA patients who were followed-up regularly and had received LFN. A total of 38 patients were included to the study. Among them, 24 had oligoarticular JIA, eleven had polyarticular JIA, two had ERA and one had psoriatic arthritis. 36 were initially treated with methotrexate and two patients diagnosed with ERA were treated with sulfasalazine. Sulfasalazine treatment was switched to LFN due to inadequate response at the 3rd month of therapy. Methotrexate was ceased due to gastrointestinal intolerance in 36 patients. Of these 36 patients, 19 patients had either low disease activity (n = 13) or remission (n = 6). LFN was administered to 13 patients with low disease activity. During the follow-up of the six patients in remission, relapse ensued and LFN treatment was started. The remaining 17 patients had moderate (n = 10) or high (n = 7) disease activity requiring biologic agents. But due to inadequate response to biologic agents, LFN was added to the therapy. All of the patients were clinically inactive at the last visit. Only two adverse events resolving within 2 weeks were noted (Lymphopenia = 1, elevated liver enzymes = 1). LFN may be an alternative therapy in case of MTX intolerance or toxicity.

Arterial aneurysms are rare manifestations of Behçet Disease (BD) with high morbidity and mortality. This study aimed to investigate the clinical course of BD patients with abdominal aortic aneurysms (AAA). We retrospectively searched charts of BD patients, followed up between 1988 and 2011, to identify those with AAA with at least 6-month clinical and radiological follow-up data. Chart review revealed 12 patients (11 males) with AAA amongst 1224 patients; follow-up data from 11 patients were available. The most common symptoms were lower back and abdominal pain. The only pre-treatment complication was a spontaneous rupture. All but one patient received corticosteroid and cyclophosphamide pulses for the induction, and corticosteroid and azathioprine for the maintenance treatment; one patient received only the maintenance treatment. Two patients had surgical graft interposition, without postoperative complications. Seven patients had endovascular stenting; five of them (71.4%) showed radiological regression after 32.5 (13.4-53.8) months, while four (57%) had clinical improvement after 11.8 (0.2-29.4) months. However, one non-responsive patient developed stent infection and exsanguinated during percutaneous drainage, and one patient developed femoral artery pseudo-aneurysm at the catheter insertion site. Another patient developed a new aneurysm under the maintenance treatment. Medical treatment alone yielded radiological regression in one of two patients. Current immunosuppressive, surgical or endovascular approaches can provide clinical and radiological improvements lately in BD patients with AAA. Furthermore, complication rates seem to be high with interventional approaches. These findings suggest an unmet need for safer alternative treatments.

We aimed to analyse the distribution of HLA Class 2 genotypes which were reported among the genetic risk factors for ANCA-associated vasculitis (AAV) among Turkish patients in comparison with healthy subjects and previously reported data of AAV cohorts. Ninety-eight patients (F/M: 47/51 and mean age: 49 ± 1.14) were enrolled in the study and records of gender and birthplace-matched 196 healthy kidney donors were used as the control group. Patients were classified according to the clinical subgroups and ANCA serotypes (MPO-AAV, PR3-AAV). DNA was isolated from venous blood from all patients, and high-resolution HLA Class 2 genotyping was carried out by using NGS-Omixon Holotype HLA Kit. The frequencies of HLA-DQB1*03:03, - *06:04, and -DPB1*13:01, -*16:01 and -*66:01:00 alleles were significantly higher, and the frequencies of HLA-DQB1*02:02, -DPB1*02:01 and -*04:01 alleles were lower in the PR3-AAV subgroup (n = 53) compared to the controls. Comparison of amino acid sequences of the associated HLA-DPB1 alleles revealed the sequence of D-E-A-V in risk alleles replaced with the G-G-P-M sequence in protective alleles between 84 and 87th positions. Structural analysis of the HLA-DPB1*02:01 showed that this shared position is in the contact area between HLA-DP α and β chains and within pocket 1 of the antigen-binding groove. First HLA genotyping analysis in Turkish AAV patients revealed a negative correlation between PR3-ANCA positivity and certain HLA-DPB1 alleles contradictory to the results reported from European cohorts. Known functional effects of D-E-A-V sequence on HLA-DPB1 support the importance of our finding, but further studies are needed to reveal its pathogenic mechanisms.

This study aimed to investigate the carpal tunnel syndrome (CTS) in patients with rheumatoid arthritis (RA) and psoriatic arthritis (PsA), compare the electrophysiological and ultrasonographic findings and evaluate related variables. Cut-off value of median nerve cross-sectional area (MCSA) was determined for the diagnosis of CTS. 70 RA patients, 39 PsA patients, a control group of 70 healty people were included in this study. Demographic characteristics, disease activity and functional status were recorded. Patients were referred for nerve conduction studies performed according to the American Academy of Neurology standards. Sonographic examination was carried on for MCSA evaluation. The mean age of patients was 51.87 ± 8.47, 50.61 ± 11.33, 49.75 ± 10.52 years and female ratio was 72.9%, 71.8%, 75.7% in RA, PsA and controls, respectively. Electrophysiologically, CTS frequency was found to be 13.2%, 15.4%, 3.5% in RA, PsA, control group, respectively, and a significant difference was found compared to the control group (p

Fibromyalgia (FM) is known a common painful syndrome and its frequency is increased in inflammatory rheumatic diseases. We aimed to assess FM frequency in axial spondyloarthritis (AxSpA) patients and age- and sex-matched healthy controls with the 2011 ACR FM criteria. We evaluated the association between receiving biologic disease-modifying antirheumatoid drugs (bDMARD) and presence of FM. 127 patients with Ax-SpA and 73 age- and sex-matched controls were included. Individuals were assessed according to modified 2011 ACR diagnostic criteria for FM. The pain was evaluated by visual analog scale (VAS). Disease activity was assessed by Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) and Ankylosing Spondylitis Disease Activation Score (ASDAS). Spinal limitation, quality of life, and functionality were assessed. Drug therapies were noted. AxSpA and control group had similar FM rates. 43 (33.9%) patients in AxSpA group and 22 (30.1%) patients in control group had FM diagnosis (p = 0.589). Age, gender, BMI, and CRP values were similar in the AxSpA patients with and without FM, while global VAS and ASDAS scores were higher in patients with FM. Biologic DMARD use was higher in the AxSpA patients with FM; however, the difference was not statistically significant. In conclusion, FM frequency does not increase in AxSpA patients as compared to healthy controls. FM awareness is one of the key points to determine the appropriate treatment due to the influence on disease activity.

Spondyloenchondrodysplasia (SPENCD) is a rare skeletal dysplasia characterized with platyspondyly and metaphyseal lesions of the long bones mimicking enchondromatosis, resulting in short stature. SPENCD often coexists with neurologic disorders and immune dysregulation. Spasticity, developmental delay and intracranial calcification are main neurologic abnormalities. Large spectrum of immunologic abnormalities may be seen in SPENCD, including immune deficiencies and autoimmune disorders with autoimmune thrombocytopenia and systemic lupus erythematosus as the most common phenotypes. SPENCD is caused by loss of tartrate-resistant acid phosphatase (TRAP) activity, due to homozygous mutations in ACP5, playing a role in non-nucleic acid-related stimulation/regulation of the type I interferon pathway. We present two siblings, 13-year-old girl and 25-year-old boy with SPENCD, from consanguineous parents. Both patients had short stature, platyspondyly, metaphyseal changes, spastic paraparesis, mild intellectual disability, and juvenile-onset SLE. The age at disease-onset was 2 years for girl and 19 years for boy. Both had skin and mucosa involvement. The age at diagnosis of SLE was 4 years for girl, and 19 years for boy. The clinical diagnosis of SPENCD was confirmed by sequencing of ACP5 gene, which revealed a homozygous c.155A > C (p.K52T), a variant reported before as pathogenic. Juvenile-onset SLE accounts for about 15–20% of all SLE cases. But, the onset of SLE before 5-years of age and also monogenic SLE are rare. Our case report and the literature review show the importance of multisystemic evaluation in the diagnosis of SPENCD and to remind the necessity of investigating the monogenic etiology in early-onset and familial SLE cases.

Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease manifesting with phenotypic heterogeneity. The phenotype-genotype correlation is not established clearly yet. Furthermore, some comorbidities such as vasculitis and inflammatory arthritis may accompany FMF. Herein, we aimed to define phenotype-genotype correlation and comorbid diseases of children with FMF. The medical records of 1687 children diagnosed and followed up as FMF were reviewed retrospectively. Disease severity was assessed by PRAS score. A total of 1687 children (841 girls, 846 boys) were involved in the study. The mean ± standard deviation of current age, age at symptom onset, and age at diagnosis were 13.1 ± 5.4, 5.4 ± 4, and 8 ± 4.2 years, respectively. Median (min-max) follow-up period was 3 (0.5-18) years. Among them, 118 (7%) patients had at least one concomitant disease and 72% of them were carrying at least one M694V mutation. Patients with a concomitant disease expressed a more severe course of disease when compared to ones without a concomitant disease (23.7% vs 8.8%, p 0.001). Children carrying homozygous M694V mutation had significantly earlier age of disease onset and severe disease course (p 0.001). Forty-four patients (2.6%) were colchicine resistant and most of them were carrying homozygous M694V mutation. Sixteen colchicine-resistant patients were treated with anakinra while 28 received canakinumab. Juvenile idiopathic arthritis (JIA) and immunoglobulin A vasculitis were the most commonly seen associated diseases and the patients with a concomitant disease demonstrated more severe course. This is the largest pediatric cohort studied and presented since now. We confirmed that carrying M694V mutation is associated both with a severe disease course and a predisposition to comorbidities.

To describe the demographic characteristics and clinical features of patients referred to a pediatric rheumatology outpatient clinic in Turkey and to compare the final diagnoses with the previous literature data. All new patients referred to pediatric rheumatology outpatient clinic of Kanuni Sultan Suleyman Research and Training Hospital between March 2018 and March 2019 were enrolled to the study. Demographic data, referral patterns, disease related features, physical examination findings and final diagnoses of new referrals were collected prospectively. A total of 2982 new referrals were evaluated in 1-year period. Among them 1561 (52%) had a diagnosis of a rheumatic disease. The frequencies of most common rheumatic diseases were; periodic fever syndromes (47.3%), juvenile idiopathic arthritis (18%) and vasculitis (14.4%), respectively. Non-rheumatic conditions were diagnosed in 1243 patients, among them orthopedic/mechanic problems (27.4%) were the most frequent ones followed by vitamin D deficiency (17.5%) and dermatological problems (9.8%). Patients with non-rheumatic conditions comprised a large part of the pediatric rheumatology outpatient clinic. National registries are required to establish the frequencies of pediatric rheumatic diseases in Turkey.

© 2019, Springer-Verlag GmbH Germany, part of Springer Nature.Juvenile-onset systemic lupus erythematosus (jSLE) patients typically have a more severe disease course than adults with SLE. We aimed to assess the prevalence and disease course of jSLE patients carrying MEFV variants. MEFV variant analyses were performed in 44 jSLE patients and effect of these variants on disease severity and course was analyzed by SLEDAI score and SLICC/ACR index. Ten of the patients (22.7%) had a MEFV variant. The median (min–max) SLEDAI score and SLICC/ACR index were 2(0–13) and 0(0–3), respectively. Median age at disease onset, disease duration, SLICC/ACR indexes, SLEDAI scores, clinical and laboratory findings of the patients were comparable in carriers of variants and non-carriers. Nineteen patients (43.2%) had biopsy-proven lupus nephritis and four of these patients had MEFV variants. There was no significant difference between patients with and without MEFV carriers in terms of lupus nephritis. Even though not significant statistically, renal involvement was milder in MEFV carriers than non-carriers. The presence of MEFV variants does not increase the overall susceptibility to jSLE in our cohort, while larger number of patients is required to display the protective role of MEFV variants in jSLE.