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Erysipelas-like erythema is the pathognomonic skin manifestation of familial Mediterranean fever although not frequently seen in the pediatric population. This study aims to describe the differences between patients presenting with and without erysipelas-like erythema and to examine the relation of erysipelas-like erythema with subclinical inflammation in a large pediatric cohort of familial Mediterranean fever patients.This retrospective study from a single pediatric rheumatology referral center included familial Mediterranean fever patients with a follow-up for at least 6 months in the last 5 years. Patients were grouped according to the presence of erysipelas-like erythema and subclinical inflammation.Among 515 patients with familial Mediterranean fever, 35 patients (6.8%) were found to present with erysipelas-like erythema, and the earliest age for erysipelas-like erythema was 2.9 years. All erysipelas-like erythema lesions were defined on lower extremities with concurrent arthritis in 21 patients (60.0%). Compared to other patients in the cohort, patients presented with erysipelas-like erythema had significantly higher frequencies of acute arthritis, subclinical inflammation, and biallelic exon 10 mutations, and they used significantly higher doses of colchicine at the latest visits (all P ≤ .002). Patients with subclinical inflammation more frequently presented with erysipelas-like erythema compared to others without subclinical inflammation (21.7% vs. 2.9%, Plt; .001).Erysipelas-like erythema is an uncommon but important finding that can be a sign of severe disease course and subclinical inflammation in the pediatric population with familial Mediterranean fever.

Interleukin-1 inhibitors are effective agents used in colchicine resistance or intoler- ance during the treatment of familial Mediterranean fever. This study aims to review the char- acteristics of patients treated with interleukin-1 inhibitors and their long-term follow-up in a large pediatric cohort of familial Mediterranean fever patients.The study was conducted in a pediatric rheumatology reference cen- ter. The patients treated with interleukin-1 inhibitors for at least 6 months were included and compared to other patients with familial Mediterranean fever. Clinical and laboratory charac- teristics of the cohort were recorded.Among 542 patients with familial Mediterranean fever, 6.1% (n = 33) were treated with interleukin-1 inhibitors. Colchicine resistance was the reason in 82.8% and renal amyloidosis in 17.2% of the patients. Patients with interleukin-1 inhibitors had earlier disease onset and higher frequencies of acute arthritis, chest pain, and erysipelas-like erythema with pathogenic exon 10 mutations of the MEFV gene (all P.04). All patients diagnosed with renal amyloidosis also received interleukin-1 inhibitors. Six patients were switched from anakinra to canakinumab or vice versa to control ongoing disease activity. Attack frequency was reduced in all patients.Interleukin-1 inhibitors are used in a relatively small number of pediatric patients with familial Mediterranean fever. Patients presenting with earlier disease onset, acute arthri- tis, chest pain, and erysipelas-like erythema and carrying pathogenic exon 10 mutations of the MEFV gene may show a higher need for interleukin-1 inhibitors. In pediatric familial Mediterranean fever patients who are resistant to colchicine, interleukin-1 inhibitors seem to be highly effective agents.

INTRODUCTION Familial Mediterranean fever (FMF) is the most common hereditary autoinflammatory disease with an increased risk for secondary amyloidosis. Since lifelong colchicine has been the treatment of choice that prevents renal amyloidosis, non-amyloid kidney diseases are more frequently considered in the differential diagnosis of proteinuria. Nutcracker syndrome (NCS) can be one of the confounding causes. This long-term retrospective study aimed to evaluate the causes of proteinuria in a pediatric cohort of patients with FMF and discuss changing trends in recent years . METHODS Demographic, clinic, and laboratory data were extracted from electronic medical records of patients with FMF. All urine tests of the study population were reviewed. Patients were evaluated for persistent proteinuria and grouped according to the etiology of proteinuria. RESULTS A total of 576 patients with FMF were identified with a mean follow-up of 6.3 years in the last 10 years; 8% had persistent proteinuria. The etiology was NCS in 67.5% of the patients with proteinuria, and renal amyloidosis was less commonly encountered (15%) without any new diagnosis for the last 8 years. Non-amyloid kidney diseases were also diagnosed in 17.5% of the patients. Patients with NCS had significantly lower BMI than other patients in the cohort and less subclinical inflammation, higher hemoglobin concentration, and milder levels of proteinuria with normal serum albumin and eGFR than other patients with proteinuria. CONCLUSION Nutcracker syndrome is the leading cause of proteinuria in children with FMF nowadays, and it should be kept in mind during the evaluation of proteinuria in these patients. A higher resolution version of the Graphical abstract is available as Supplementary information.

Objectives The aims of this study were to describe the clinical features, comorbidities and outcome of systemic childhood polyarteritis nodosa (PAN) and to evaluate PAN-like diseases in differential diagnosis. Methods The study group consisted of patients who were diagnosed as PAN in a referral center in Turkey. The files of all patients were reviewed retrospectively. Disease activity was evaluated with pediatric vasculitis activity score (PVAS). Results A total of 19 (13 boys/six girls) patients were enrolled in the study. The mean age of patients was 10.37 ± 3.6 years. The mean duration of follow-up was 5.73 ± 3.74 years. Eight patients (42.1%) were also diagnosed with familial Mediterranean fever (FMF). The cutaneous involvement was higher in patients with PAN than those with FMF-associated PAN (p = .03). The median (min–max) PVAS at diagnosis was 5 (3–7). There was no correlation between PVAS scores at the time of diagnosis and age, clinical findings and relapse. CECR1 mutation was detected in one patient leading to deficiency of adenosine deaminase 2. Conclusion The clinical presentation is variable in children with PAN. PAN-like diseases characterized by necrotizing vasculitis should be considered. The possibility of FMF should be kept in mind if inflammation cannot be controlled.

Background: Systemic lupus erythematosus (SLE) is a common multisystemic autoimmune disease characterized by the presence of autoantibodies and multiorgan system involvement. The aim of this study was to describe the presenting clinical manifestations, laboratuary findings, clinical course and prognosis of SLE in children. Methods: We performed a retrospective study patients with SLE, diagnosed before the age of 18 years. Clinical and laboratory data were collected from initial admission to study initiation. Results: Thirty-five children and adolescents SLE (cSLE) were recorded, 85.7% of female. The median age at disease onset was 12(range 4-17) years, and median follow up duration was 5 (1-14) years. The most common clinical feature was arthritis (65.1%), followed by constitutional symptoms (48.6%), malar rash (31.4%), photosensitivity (5.7%), alopecia (5.7%) and oral ulcers (5.7%). Renal involvement accounted 4/5 of the patients (80%). Hematuria and proteinuria were the most frequent presenting findings (48.5% and 45.7% respectively). Renal biopsy was performed in 27 patients. According to WHO classification: 1 patient had classV nephritis, 10 had class IV, 4 had class III and 12 had class II nephritis. 20% of children developed neurologic symptoms. One patient died during the follow-up period. At the last follow up none of the patients had renal failure but, proteinuria persisted in 4 of them (11.4%). All neurological findings of patients are in remission apart from sequelae. Conclusion: Clinical outcome was favorable in our patients. Renal involvement is common but progression to end stage kidney disease, at least in the short term, is rare.

Intra-articular corticosteroid injection (IACI) is generally used in the management of juvenile idiopathic arthritis (JIA) to obtain rapid relief of active synovitis and functional recovery and to prevent the need for regular systemic therapy. The aim of this study was to investigate the outcome of IACI treatment and the factors associated with remission of synovitis.The clinical records of JIA patients who received IACI between January 2014 and December 2020 in two pediatric rheumatology centers were reviewed. The procedure was evaluated in terms of efficacy, factors that may affect the duration of remission, procedural and drug-related complications.During the study period, 134 patients received 227 injections and 37 joints were injected more than once. One hundred and six (79%) patients had persistent oligoarticular disease. At the time of injection, all patients were receiving non-steroidal anti-inflammatory drugs, 74 patients were on methotrexate, and 14 patients were on biologics. The median duration of remission without exacerbation of synovitis treated with IACI was 15 (range 1-64) months. The inactivity rate was 81% at the 6th month after the injection. It has been shown that being less than 7 years old at disease onset and low initial CRP levels were correlated with a long remission period (p 0.05). Despite the differences were not statistically significant, the duration of remission was longer in boys, in ANA positives, in HLA-B27 negatives, in patients with concurrent methotrexate treatment and in patients not receiving biologic therapy (p 0.05). Only two patients (1.5%, 95% CI - 0.6 to 3.5) developed cutaneous hypopigmentation and subcutaneous atrophy as side effects of injection.Intra-articular corticosteroid injection was more effective especially in patients with low initial CRP levels and younger than 7 years of age. The duration of remission was longer in these patients. Key Points • Intra-articular corticosteroid injection is an effective method for controlling joint inflammation and achieving long-term remission without significant side effects. • Intra-articular corticosteroid injection can be preferred in all forms of juvenile idiopathic arthritis as primary therapy or to relieve the patient while waiting for the effect of systemic agents or to avoid increasing the dose of systemic drugs. • It can be recommended as a treatment option at any stage of the disease, especially in young patients and patients with low initial CRP values.

AIMS Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterised by recurrent episodes of fever and serosal inflammation with elevated acute phase reactants. Assessing the severity of the disease may be useful in identifying colchicine-resistant patients. The aim of this study is to determine the disease severity of FMF patients according to the Pras, Mor, and International Severity Scoring System for Familial Mediterranean Fever (ISSF) scoring systems and to evaluate the consistency of these three systems. METHODS The medical records of patients with FMF were retrospectively reviewed. Demographic features, family history of FMF, clinical characteristics at disease onset, laboratory features, Mediterranean fever genetic mutations, treatment regimens, and disease courses were recorded. RESULTS A total of 205 patients (116 girls) were included in the study. The mean age of the patients was 13.3 ± 4.0 years. The Pras, Mor, and ISSF scores were inconsistent with each other, and there was poor fit between them (generalised Kappa: 0.140 ± 0.029; P

GirişJuvenil idiopatik artrit (JİA) çocukluk çağının en sık görülenromatolojik hastalığıdır. Kısa ve uzun dönemde ciddi morbiditelere yolaçabilir. JİA’da hastalık aktivasyonu klinik değerlendirme ve inflamasyonunbilinen belirteçleri ile gösterilebilir. Ancak günümüz pratiğinde bu ikiparametre her zaman birbiri ile uyum içerisinde olmamakta, bu durumda daözellikle tedavinin planlanmasında ve izleminde zorluklara yol açmaktadır. Buçalışma ile amacımız interlökin-1β (İL-1β), interlökin-6 (İL-6), tümörnekrozitan faktör alfa (TNF-α)’nın oligoartiküler JİA’da hastalık aktivitesini göstermedekullanılabilirliğini araştırmaktır.Gereç veyöntemlerYeni tanı almış 13 oligoartiküler JİA hastası ve 8 sağlıklıkontrol çalışmaya dâhil edildi. Hastaların başvurularında ve inaktifdönemlerinde İL-1β, TNF-α ve İL-6 düzeyleri bakıldı. Hastaların aktivite veyaşam kalitesi ölçümleri için JADAS-27 (Juvenile Arthritis Disease ActivityScore) ve JAQQ (Juvenile Arthritis Quality of Life Questionnaire) kullanıldı. BulgularHastaların aktif dönemlerinde bakılan İL-6, İL-1β ve TNF-αdüzeyleri ile inaktif dönem ve kontrol grubu arasında anlamlı farklılıksaptanmadı. Hastaların ilk başvurularındaki JADAS-27 skorları ile inaktifdönemdeki JADAS-27 skorları karşılaştırıldığında anlamlı olarak inakif dönemdeskorda azalma olduğu saptandı (p=0,02). Hastaların JAQQ puanlarıkarşılaştırıldığında ise gruplar arasında anlamlı farklılık saptanmadı(p=0,382). JADAS-27 puanları >10 ve ≤10 olanların sitokin düzeyleri karşılaştırıldığında, gruplar arasında düşükpuana sahip hastalarda anlamlı olarak düşük İL-1β düzeyi saptandı. İL-6 veTNF-α düzeyleri için ise fark anlamlı bulunmadı.TartışmaJİA hastalarında aktivasyonun ve remisyonun değerlendirilmesi içinçeşitli laboratuvar değerleri ve aktivite skorları kullanılmaktadır. Sonuçlarımızve literatür ışığında bakıldığında oligoartiküler JİA hastalarında sitokindüzeylerinin hastalık izlem ve aktivitesininin değerlendirilmesindekullanılabilirliği kısıtlıdır., ObjectiveJuvenile idiopathic arthritis (JIA) is the most commonrheumatologic disorder in childhood. It may causeshort and long-term morbidities. Disease activity assessment in JIA patients isbased on clinical examination and conventional parameters of inflammation. However,those parameters are not always in concordance and there could be difficultiesin planning of therapy and management. The aim of this study is to evaluate therole of interleukin-1β (IL-1β), interleukin-6 (IL-6), tumor necrosis factoralfa (TNF-α) in determining disease activity of JIA patients. Materialsand methodsThirteen new diagnosed oligoarticular JIA patients andeight healthy controls were enrolled in the study. We investigated serum levelsof IL-1β, TNF-α and IL-6 during both activeand inactive phases of the disease. To evaluate the disease activity andquality of life we used JADAS-27 (Juvenile ArthritisDisease Activity Score) and JAQQ (JuvenileArthritis Quality of Life Questionnaire).ResultsThere were no statistically significantdifferences regarding IL-6, IL-1β and TNF-α between the active phase, inactivephase and control group. Comparing JADAS-27 scores, there was a statisticallysignificant decrease in inactive period compared with the inactive period (p=0.02).However, no significant difference was obtained about the JAQQ scores betweenactive and inactive stage (p=0.382). Levelsof IL-1β were significantly decreased in patients with low disease activity (JADAS-27score ≤ 10) compared with those of severe and moderate disease activity (JADAS-27score >10). On the other hand, no significant differences were obtained forIL-6 and TNF-α.ConclusionThere are few methods to evaluate theactivation and remission periods of JİA. According to our results and theliterature assessment of cytokine levels has limited value in diagnosis,monitoring and evaluating the severity of the oligoarticular JIA patients.

Purpose: To describe the characteristics of patients with familial Mediterranean fever (FMF) concurrent with ocular inflammatory disease (OID) and to criticize possible relations between them.Methods: Clinical data were extracted from electronic medical records. Additionally, the medical literature on OIDs in FMF was reviewed.Results: Among 512 pediatric patients with FMF, five patients were found to have OIDs: bilateral chronic uveitis, recurrent orbital myositis (ROM), recurrent optic neuritis, and acquired Brown’s syndrome. The first cases of ROM and acquired Brown’s syndrome in FMF have been introduced in the literature. All patients presented with early-onset typical FMF attacks carried at least one M694V mutation and experienced OID while on colchicine. Conclusion: Increased frequency of OIDs in FMF as per the pediatric population and relapsing and chronic course of OIDs occasionally with concurrent FMF attacks suggest that this inflammatory syndrome especially those carrying M694V mutations may be a predisposing factor for OIDs.

Objective: Increased survival rates in childhood cancers have led the researchers to focus on long-term side effects and possible risk factors for late nephrotoxicity related to the treatment regimens applied. Our aim is to evaluate drug-induced nephrotoxicity in survivors of childhood cancer and to investigate the compatibility of creatinine clearance with the estimated glomerular filtration rate. Methods: The presence of glomerular and tubular dysfunction has been screened among 59 childhood cancer survivors who had completed their treatment regimens with cisplatin, carboplatin, ifosfamide, and /or high dose methotrexate. Results: The mean age of patients was 10.7±5.5 years (2.5-23), and mean follow-up time was 2.6±2.1 years (0.5-8). Renal dysfunction was detected in 65% of the patients. The most prevalent manifestation of renal dysfunction was decreased glomerular filtration rate (n: 19, 32.2%), and increased urinary β2-microglobulin excretion (n: 12, 20.4%), followed by microalbuminuria (n: 6, 10.1%). Survivors treated with combined chemotherapy regimens (cisplatin, carboplatin, ifosfamide) had significantly lower tubular reabsorption of phosphate than those treated with high dose of methotrexate. The glomerular filtration rate analysis was performed using different methods, and a moderate correlation (r=0.563, p=0.00) was found between estimated glomerular filtration rates calculated according to cystatin-C-based equations and Schwartz formula. Conclusion: Childhood cancer survivors demonstrated a high frequency of renal complications in the current study. We have shown that the calculation of the estimated glomerular filtration rate using the Schwartz formula or cystatin-C-based equations is compatible with the creatinine clearance in this specific patient group. In survivors of childhood cancer who cannot perform 24-hour urine collection, determination of estimated glomerular filtration rate is a more practical approach.

Objective: Peritoneal dialysis is a complex and variable process. Many factors can affect efficiency of dialysis, and relevant mortality and morbidity rates. Efficient dialysis is important in improving quality of life as well as reducing the morbidity and mortality rates. Dialysis fill volume, intraperitoneal pressure and ultrafiltration (UF) are important variables that determine dialysis efficiency. We aimed to investigate the factors affecting dialysis efficiency and to determine necessities to develop a more effective dialysis program. Methods: Sixteen continuous ambulatory peritoneal dialysis (CAPD) patients between the ages of 7 and 19 years who were followed up in the Pediatric Nephrology Department were included in the study. Patients who had peritonitis, surgical or medical complications in the last 6 months were excluded from the study. Demographic data, duration of dialysis, hemogram, urea, creatinine, albumin, glucose levels, intraperitoneal pressures, peritoneal equilibration test (PET) and Kt/Vurea test results were recorded. Results: Mean Kt /Vurea, dialysis fill volume, UF, intraperitoneal pressure, Hb and serum albumin were found as 2.5±0.93 (1.22-4.64), 1123.4±126.86 (875-1360) ml/m2, 600.1±382.15 (85 -1375) ml, 12.9±2.77 (8.5-19) cm/H2O, 9.0±1.54 (6.3-11.8) gr/dl and 3.6±0.61 (2.45-4.8) gr/dl, respectively. A statistically significant relationship was shown between UF and Kt/Vurea (p=0.04). The mean duration of dialysis was 54±36 months. The majority of the cases had high (37.5%) and medium-high (31.25%) peritoneal permeability. High permeability was found to have a significant relationship with the duration of dialysis (p=0.04). Conclusion: Efficient peritoneal dialysis depends on preserved ultrafiltration. Therefore, the dialysate volume should be calculated according to the intraperitoneal pressure and dialysis should be adjusted according to the permeability properties of the peritoneal membrane.

The aim of this study is to describe clinical features of patients with oligoarticular juvenile idiopathic arthritis (JIA) who achieved inactive disease at 3rd month and also to determine the predictors of relapse and extended course.In the cohort study, 88 patients with oligoarticular JIA were retrospectively analyzed. The demographic data, clinical features, medications, relapse rates were recorded. Juvenile Arthritis Disease Activity Score (JADAS) and American College of Rheumatology Pediatric criteria were used to measure disease activity and treatment response at 3, 6 and 12 months.Fifty-nine (67%) patients were females and the mean age at diagnosis was 7.9 ± 4.3 years. The odds of achieving inactive disease (JADAS ≤1) at 3rd month were increased by a lower JADAS27 score at admission. Forty-one (48.8%) of 84 patients relapsed. Ankle involvement at onset, high JADAS27 score at admission, increased ESR at admission and presence of synovial hypertrophy in imaging were risk factors for occurrence of relapse.Our results show that a significant proportion of oligoarticular JIA patients relapse after inactive period. JADAS is a useful tool to guide the treatment decisions of patients who may be at risk of high disease activity and relapse.

Amac: Juvenil sistemik lupus eritematozus (jSLE); kronik, sistemik, relaps-remisyon ataklari ile seyreden, bircok sistemi etkileyebilen ve noropsikiyatrik bulgularin da goruldugu otoimmun bir hastaliktir. Bu calisma ile jSLE tanili hastalarin tani esnasinda var olan klinik ve laboratuvar ozelliklerinin arastirilmasi ve norolojik bulgularin degerlendirilmesi amaclanmistir. Gerec ve Yontem: Temmuz 2004-2019 tarihleri arasinda klinigimizde American College of Rheumatology (ACR) 1997 kriterlerine gore jSLE tanisi ile izlenen hastalarin dosyalari retrospektif olarak incelendi. Demografik, klinik, laboratuvar ve goruntuleme bulgulari kaydedilerek noropsikiyatrik tutulumu olan hastalar degerlendirildi. Bulgular: jSLE tanisi ile izlenen 40 hastanin 33’u (%82,5) kizdi (K/E:4,7). Hastalik tani yasi ortalama 10,33 ± 2,56 yildi. Tum hastalarin ortalama izlem suresi 5,9 ± 3,1 yil idi. Renal tutulum 32 (%80), hematolojik tutulum 27 (%67,5), eklem tutulumu 25 (%62,5) ve mukokutanoz bulgular 19 hastada (%47,5) saptandi. Hastalarin 6’sinda (%15) norolojik tutulum tanimlanmisti ve bu hastalarin tumu kizdi. Alti hastanin 5’inde norolojik tutulum ilk basvuruda vardi. Dort hastada bas agrisi, 2 hastada nobet, 2 hastada uyku hali, 1 hastada koreiform hareketler, 1 hastada psikoz ve 1 hastada mononoritis multipleks mevcuttu. 5’inde eslik eden nefrolojik ve hematolojik tutulum vardi ve tedavi eslik eden nefrolojik tutulum goz onune alinarak duzenlendi. Tum hastalar hidroksiklorakin, induksiyon tedavisi olarak pulse metilprednisolon sonrasi oral prednisolon ve intravenoz aylik 6 ay siklofosfamid aldi. Uc hastada mikofenolat mofetil ile idame tedavisi yapildi. Hastalarin izleminde norolojik sekel gozlenmedi. Sonuc: Norolojik bulgular cocukluk cagindaki SLE hastalarinin klinik bulgularina eslik edebilir ve bazen ilk basvuru nedeni olabilir. Ozellikle adelosan donemde aciklanamayan norolojik bulgulari olan kiz cocuklarinda otoantikorlar mutlaka degerlendirilmeli ve jSLE akilda tutulmalidir.

The aim of the study was to assess the clinical features and outcome parameters of children with vesicoureteral reflux (VUR) based on gender and VUR grade.Patients with VUR who were seen during routine follow-up visits at Ankara University Children's Hospital between January 2014-January 2015 were included in this retrospective study. Patient demographics, clinical course, laboratory investigations, imaging were noted.Two hundred and twenty patients were recruited. Mean age at the time of diagnosis was 3,17 ± 3,08 years. Boys were diagnosed at younger ages as compared to girls (2.00 ± 2,59 vs. 3,81 ± 3.15, p0.001). Urinary tract infection (UTI) was the most common presentation. The second presentation form was antenatal hydronephrosis (AHN) which was more common in males (25.6 %, p0.001). Twenty-two percent of the patients had grade 1-2, 51 % grade 3 and 27 % grade 4-5 reflux. Patients with grade 4-5 reflux had more abnormal ultrasound (US) and Tech 99m dimercaptosuccinic acid scintigraphy (DMSA) findings and surgery was performed more frequently in this group (p0.001). In males, grade 4-5 reflux (43.6 % vs. 18.3 %), abnormal US (77 % vs. 54 %) and DMSA (77 % vs. 59 %) findings were more frequent (p0.05). In girls higher rates of UTIs, lower urinary tract dysfunction (LUTD) and spontaneous reflux resolution were seen (p0.05).Despite younger age at diagnosis, spontaneous resolution was found lower in boys and they had more frequent AHN, more severe reflux, and radiological abnormalities.Introducción: El objetivo fue evaluar las características clínicas y la evolución del reflujo vesicoureteral (RVU) según el sexo y grado de RVU. Población y métodos: Se incluyeron pacientes con RVU vistos durante el seguimiento de rutina entre enero de 2014 y enero de 2015. Se registraron las características demográficas, la evolución, los laboratorios y las imágenes. Resultados: Se seleccionó a 220 pacientes, cuya media de edad del diagnóstico era 3,17 ± 3,08 años; en ese momento, los varones eran menores que las niñas (2,00 ± 2,59 vs. 3,81 ± 3,15

Objectives: Familial Mediterranean fever (FMF) is an autosomal recessive disease, characterized by recurrent, self limited attacks of fever with serositis. The aim of this study was to describe the...

Background Renal dysfunction is an underestimated complication of thalassemia major. Objectives The aim of this study is to compare the glomerular and tubular functions in children with β- Thalassemia major (β- TM) with healthy controls and assess the oxidative stress caused by high ferritin levels. Design and setting This prospective cross-sectional study was conducted in tertiary care hospital. Methods Complete blood count (CBC), calcium (Ca), urea, creatinine (Cr), serum cystatin C before transfusion and urinary calcium (uCa), creatinine (uCr), protein (UPr) levels were analyzed in fresh samples. Beta-2-microglobulin (uβ2-MG), N- acetylglucosaminidase (uNAG), retinol binding protein (uRBP), malonedialdehyde (uMDA) secretion and creatinine levels were analyzed. Serum total antioxidant capacity (sTAC) and total oxidant capacity (sTOC) were measured with colorimetric micro-ELISA method. Last four serum ferritin values were recorded and the mean value was used for statistical analyzes. Results Data from 47 patients and 32 controls were analyzed. The urinary RBP/Cr, Ca/Cr and Protein/Cr, were significantly higher in β-TM group. A statistically insignificant increase in urinary β2MG/Cr, uNAG/Cr, MDA/Cr was also found in the TM group. Proteinuria was present in 46 % (n: 22) and hypercalciuria in 34 % (n: 16) of the patients with β- TM. Serum total antioxidant capacity and total oxidant status (TOS) levels were significantly elevated in the patient group. Serum ferritin was significantly correlated with proteinuria, cystatin C levels, urinary Protein/Cr and uRBP/Cr. Conclusion Asymptomatic renal dysfunction is prevalent in β- TM patients that necessitate regular screening. Urinary RBP may be useful for early diagnosis.

Objectives: Familial Mediterranean fever (FMF) is an autosomal recessive disease characterised by recurrent, self-limited attacks of fever with serositis. Recently, it was shown that FMF patients with early disease onset have more severe disease. The aim of this study was to describe the demographic, clinical and genetic features of FMF patients who had disease onset during the neonatal period. Methods: Medical records of all patients diagnosed as FMF and had been seen in the outpatient clinic of Paediatric Rheumatology department between January 2013 and January 2014 were retrospectively evaluated. Patients with disease onset during the first month of life were included to the study. Results: Among 317 patients; 19 (12 males) were included to the study. Approximately 60% of the patients had family history of FMF. Homozygous p.M694V mutation was detected in 42% of the cases. Thirteen patients present with attacks of fever and remaining had attacks in the form of restlessness, resembling infantile colic starting in the neonatal period. Majority of these patients developed classical abdominal attacks between the ages of 1 and 2.5 years. The diagnosis of FMF was significantly delayed; the median age at onset of therapy was 3.5 years (range 7 months-17 years). Conclusion: Patients with FMF could have complaints even in the neonatal period. Homozygous p.M694V mutation is a prominent mutation in this group of patients. In order to prevent diagnostic delay physicians dealing with these type of patients should be more vigilant.

Familial Mediterranean fever (FMF) is characterized by recurrent, self-limited attacks of fever with serositis involving the peritoneum, pleura and joints. Fatigue is a common problem in many pediatric rheumatic diseases; however, has not been evaluated systematically in FMF patients. Accordingly, the aim of this study was to evaluate fatigue and its possible allied factors in patients with FMF.Patients with FMF, aged between 10 and 21 years, were assessed by completed validated fatigue questionnaire (Checklist Individual Strength-20). As a control group, patients with chronic rheumatic diseases and healthy children without any chronic disease were included.The study group comprised 111 patients with FMF, 54 with other chronic rheumatic diseases and 79 healthy subjects. While the CIS-20 total score and subscale scores (including subjective experience of fatigue) were similar between patients with FMF and those with other chronic rheumatic diseases (p .05); both groups had significantly higher scores when compared with healthy subjects (p .05). FMF patients with musculoskeletal complaints had significantly higher scores of subjective experiences of fatigue when compared to those without those complaints.Fatigue is a common but unrecognized complaint in patients with FMF. Familial Mediterranean fever seems to be a chronic disease with inter attack ongoing complaints.

Agbas, Ayse/0000-0002-3658-8622; Ozcakar, Zeynep/0000-0002-6376-9189; Cakar, Nilgun/0000-0002-1853-0101 WOS: 000437355600002 PubMed: 29533929 Background: There are limited data on infants with atypical hemolytic uremic syndrome (aHUS). The aim of this study was to determine the clinical and laboratory features, and to evaluate treatment modalities and outcomes in infants with aHUS. Materials and Methods: Relevant data on patients with onset of aHUS at age

BACKGROUND Increased antimicrobial resistance is a problem in managing urinary tract infections (UTI). With this study we assessed the resistance patterns of urinary isolates in children with UTI between January 2017 and January 2018. METHODS A retrospective cohort study was conducted. Among 5,443 isolates, a total of 776 UTI episodes in 698 patients were included. Patients' gender, age, voiding dysfunction, UTI history, prophylaxis status, and presence of vesicoureteral reflux were noted. Patients were divided into three age groups: group 1 for ages ≤12 months; group 2 for ages 13-60 months; and group 3 for ages >60 months. The susceptibilities of etiologic agents to different antimicrobials were explored. RESULTS Median age was 54 months (range 1 month-21 years); male to female ratio was 1:5. The most common causative agent was Escherichia coli (83% of the cases), followed by Klebsiella pneumoniae (7.5%). Resistance to ampicillin (62.6%) and co-trimoxazole (39.8%) were remarkable in all isolates. Overall extended-spectrum beta-lactamase (ESBL) positivity was 23.5%. The highest resistance rates, higher ESBL positivity (28.6%), and K. pneumoniae frequency (13.5%) were observed in group 1. Ceftriaxone resistance was significantly low (0.5%) in the ESBL (-) group, which constituted the majority of the isolates. Higher resistance rates were observed among the patients on prophylaxis compared to those off prophylaxis (P < 0.001). CONCLUSION Ceftriaxone can still be used for empirical treatment; however, initial urine culture results are crucial due to high ESBL positivity. Special consideration must be taken for patients under 1 year of age. Periodical surveillance studies are needed to explore the changing resistance patterns of uropathogens and modify treatment plans.

Alemtuzumab is a monoclonal antibody against CD52 that is being increasingly used in renal transplantation as a lymphocyte-depleting agent. Data on alemtuzumab use in resistant rejection episodes are scarce, especially in children. Here, we present a 14-year-old renal transplant patient with acute cellular and humoral rejection who was treated with pulse steroids, plasmapheresis, and intravenous immunoglobulin with no success. He had 2 previous rejection episodes that were treated with antithymocyte globulin. In the third episode, alemtuzumab was given as a rescue therapy, and the patient benefited from the treatment. No complications were observed. Alemtuzumab can be a treatment option in pediatric patients with refractory rejection episodes.

Background Systemic lupus erythematous (SLE) is extremely rare in infants and has been reported to be a much more severe disease with higher prevalence of critical organ involvement. Herein we present the clinical and laboratory features of infantile SLE (iSLE) with an onset of nephrotic syndrome (NS) during the first year of life. Case A 12-month-old boy was suffering from generalized edema for two months. He had thrombocytopenia, hemolytic anemia with positive direct and indirect Coombs tests and proteinuria of nephrotic-range. Other laboratory studies revealed slightly decreased C3, low C1q and normal ANA and C4 levels; anti-phospholipid and anti-cardiolipin antibodies were also found to be negative. Renal biopsy revealed Class IV lupus nephritis. The patient also suffered from massive pulmonary thromboembolism. Complete remission was achieved with steroid, cyclophosphamide, mycophenolate mofetil and anticoagulant therapy. Conclusion iSLE should be kept in mind especially in infantile NS with multisystem involvement. Renal biopsy is mandatory for early diagnosis. Although the disease was reported to have poor prognosis, complete remission could be achieved with intensive immunosuppressive therapy.

Autoinflammatory diseases (AIDs) are a recently described group of conditions caused by mutations in multiple genes that code for proteins of the innate immune system. Cryopyrin-associated periodic syndromes (CAPS) are autoinflammatory diseases comprising three clinically overlapping disorders: familial cold urticarial syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID). CAPS have been associated with gain-of-function variations in NLRP3 (NOD-like receptor family, pyrin containing domain-3). However, a new class of autoinflammatory disease resembling FCAS or MWS has been described in patients with NLRP12 mutations. Here, we report a 6-year-old boy diagnosed with AID who developed an unexpected C3 glomerulopathy during attacks and carried a novel variation in NLRP12. Following treatment with IL (interleukin) 1 targeting agents, all symptoms and inflammation resolved. This is the first case in the literature affected by both autoinflammatory disease and C3 glomerulopathy.

Castleman disease (CD) is a rare poorly understood lymphoproliferative disorder. Pediatric onset CD has been reported before. However, most of them have benign unicentric pattern. Multicentric CD (MCD) is quite rare in children. Herein, we report a 13-year-old adolescent boy with MCD of the hyaline vascular variant presenting with pleural and pericardial effusion, which is an uncommon presentation.MCD should be considered in the differential diagnosis of pleural and/or pericardial effusion with unexplained lymph nodes in children. What is Known •Pediatric Castleman disease (CD) most commonly occurs in the unicentric form, which typically is asymptomatic and cured by lymph node excision. •The diagnosis of MCD can be difficult owing to the heterogeneity of presentation and potential for nonspecific multisystem involvement. What is New •A 13-year-old adolescent boy was diagnosed with MCD of the hyaline vascular variant presenting with pleural and pericardial effusion, which is an uncommon presentation. •In a pediatric patient with fever, pleural-pericardial effusion and multiple lymph nodes, MCD should be considered in differantial diagnosis.

Kistik bobrek hastaliklari, kalitimsal bobrek hastaliklari icinde en sik gorulen grup olup, her biri farkli etiyoloji, patogenez, klinik prezentasyon ve prognoza sahiptir. Hastaligin tanisi aile oykusu, klinik bulgular ve goruntuleme yontemleriyle konulabilmektedir ancak bazi olgularda kesin tani icin genetik calisma gerekebilir. Son on yil icerisinde kistik bobrek hastaliklarinin etyopatogeneziyle ilgili bircok yeni bilgi kazanilmistir. Edinilen bilgiler ozellikle primer siliyanin bozulmus mekanik algilama fonksiyonu, artmis proliferasyon ve iletisim yolaklarinin kist gelisiminin temelini olusturdugunu isaret etmektedir. Bu derlemede kalitimsal kistik bobrek hastaliklarinin patogenezi, belirtileri ve tanida genetik incelemenin yeri tartisilmistir

Objectives: This study aims to investigate the relationship between the Childhood Health Assessment Questionnaire (CHAQ) and types of juvenile idiopathic arthritis (JIA), the disease activity, laboratory findings, and treatments of patients with JIA. Patients and methods: Eighty-two children with JIA (37 males, 45 females; mean age 13.96±4.45 years) and 68 healthy children (31 males, 37 females; mean age 10.1±4.24 years) participated in the study. CHAQ, composed of discomfort and disability indexes, was applied to patients and the control group. Results: CHAQ score was significantly higher in JIA patients than in the control group (p 0.05). Visual analog scale pain scores and CHAQ scores were significantly higher in patients in an active disease period than patients in remission (p

Amaç: Çalışma ile çocuk hastalarda Akut Böbrek Hasarının (ABH) etiyolojisi, klinik özellikleri, prognoz üzerinde etkili faktörleri ve sonuçları tanımlamak için Acute Kidney Injury Network tarafından öne sürülen sınıflandırma kriterlerinin kullanılması ve ABH sınıflandırılmasında pediatrik-modifiye RIFLE (pRIFLE) kriterlerinin rutine geçirilmesi amaçlanmıştır.Gereç ve Yöntemler: Mayıs 2008-Temmuz 2010 arasında ABH tanısı ile yatırılan ya da hastanede izlemi sırasında ABH gelişen %25’i yenidoğan 72 hasta (42 erkek, 30 kız) ileri doğru olarak incelendi.Bulgular: Hastaların ortanca yaşı 9.11 ay (minimum 0, maksimum 216.56 ay)’dı. ABH nedeni olarak dehidratasyon, %30.6 oranı ile en sık etiyolojik faktör olarak saptandı. Bunu sırasıyla hipoksi (%19.4), sepsis (%16.7), ilaç (%12.5) ve hemolitik üremik sendroma (%9.7) bağlı ABH izledi. Hastaların %15.3’ü risk, %25’i hasar, %59.7’si ise yetmezlik olarak sınıflandırıldı. Mortalite oranı %26.4’dü. Erkek cinsiyet, mekanik ventilasyon, nefrotoksik ilaç, ABH gelişimi sırasında hastanede yatıyor olmak, oligüri/anüri ve nefroloji konsültasyonunun gecikmesi mortalite ile ilişkili bulundu (p, Objective: The aim of this study was to use the classification criteria suggested by the Acute Kidney Injury Network in order to define the etiology, clinical features, prognostic factors and results of Acute Kidney Injury (AKI) in pediatric patients and to support the routine application of pediatric-modified RIFLE (pRIFLE) criteria for the classification of AKI.Material and Methods: The patient group comprised 72 patients (42 males, 30 females) of whom 25% were newborns and 75% were children aged >1 month, who were either hospitalized due to a diagnosis of AKI or in whom AKI had developed during hospitalization between May 2008 and July 2010. Results: The median age at the time of AKI was 9.11 months (minimum 0, maximum 216.56 months). The etiology of AKI was dehydration in 30.6%, hypoxia in 19.4%, sepsis in 16.7%, drug-induced in 12.5% and hemolytic uremic syndrome in 9.7%. AKI patients were classified according to the staging system as follows: 15.3% of the patients were in the risk, 25% in the injury, and 59.7% in the failure category. The mortality rate was 26.4%. Male sex, mechanical ventilation, nephrotoxic drugs, hospitalization before the development of AKI, oliguria/anuria and delay in nephrology consultation were found to be associated with increased mortality (p

Familial Mediterranean fever (FMF) is an inherited periodic auto-inflammatory disease characterized by recurrent attacks of fever, synovitis and serositis. Ophthalmological manifestations of FMF are extremely rare. Here we described a boy who has been followed-up for FMF and attended with a loss of vision during the course of the disease. He was diagnosed with optic neuritis. As the other etiologies were excluded his optic neuritis was attributed to the underlying auto inflammatory process. After pulse steroid therapy, his symptoms improved and a complete remission occurred. Afterwards he had two more optic neuritis attacks. Thereafter anti-interleukin 1 (IL-1) drugs were introduced and he did not develop further attacks of both optic neuritis and FMF. This case presentation highlights the possible association between FMF and optic nerve involvement.

Background Familial Mediterranean fever (FMF) is the most common hereditary monogenic autoinflammatory disease caused by mutations in the MEFV gene. It is controversial whether E148Q alteration is an insignificant variant or a disease-causing mutation. The aim of this study was to evaluate the clinical features and disease severity of FMF patients carrying E148Q mutation. Methods Files of FMF patients were retrospectively evaluated. Patients with at least one E148Q mutation were included to the study. The clinical characteristics and disease severity of the patients who were carrying only E148Q mutation were compared with the patients who were compound heterozygous for E148Q and homozygous for M694V mutation. Results The study group comprised 33 patients who were homozygous or heterozygous for E148Q; 34 with compound heterozygous E148Q mutations and 86 patients who had homozygous M694V mutation. Patients who had only E148Q mutation were found to have the oldest mean age of disease onset and lowest mean disease severity score. Attack frequency and colchicine doses were lower in patients with only E148Q mutation as compared with the other two groups. The frequency of clinical findings such as fever, abdominal pain, arthralgia, and arthritis among the three groups was similar. Conclusion Familial Mediterranean fever patients with only E148Q mutation are presenting with late-onset and milder disease course despite having similar clinical findings as compared with patients who had other mutations. Finally, we imply that E148Q is a mutation and colchicine treatment should be given.

Basaran O, Cetin II, Aydin F, Uncu N, Cakar N, Ekici F, Celikel Acar B. Heart rate variability in juvenile systemic lupus erythematosus patients. Turk J Pediatr 2019; 61: 733-740. Although neurological involvement has been well recognized in patients with systemic lupus erythematosus (SLE), autonomic nervous system (ANS) involvement has rarely been studied, and has shown conflicting results. The aim of this study was to evaluate the ANS functions by using heart rate variability (HRV) in juvenile patients with SLE. Sixteen juvenile-onset SLE patients and 16 healthy controls were enrolled in the study. All participants underwent 24-hour Holter electrocardiogram monitoring and HRV indices were assessed. The SLE disease activity index (SLEDAI) score was used to assess the disease activity. We analyzed the correlation between disease duration, the SLEDAI score, and the HRV domains. Overall HRV was diminished in patients with SLE compared to controls. There were negative correlations between day and night RMSSD (root-mean-square of the successive normal sinus NN interval differences) and PNN50 (percentage of successive normal sinus NN intervals > 50 ms) values, and SLEDAI (r= -0.588 p=0.017; r= - 0.607 p= 0.013; r= -0.498 p=0.049; r= -0.597 p=0.015, respectively). There were positive correlations between both day and night LF/HF values and SLEDAI (r=0.766 p=0.001; r=0.635 p=0.008, respectively). The results suggest that autonomic dysfunction exists in juvenile patients with SLE. As these children are at increased risk for cardiovascular disease, they need to be assessed for the development of autonomic dysfunction.

Henoch-Schonlein purpura (HSP) is the most common vasculitis in children. Vasculitic processes can involve the lung. Although diffuse alveolar hemorrhage may be seen as one of the manifestation of HSP, it is not a frequent presentation. Here we reported the case of a 10-year-old girl with HSP nephritis who developed pulmonary hemorrhage. The patient was treated successfully with intravenous methylprednisolone. A review of the literature revealed that young age may be a good prognostic sign and that immunosuppressive drugs and supportive management are essential in the treatment.

BACKGROUND Obesity and hypertension (HT) are well known cardiac risk factors. Our goal was to show that even if arterial blood pressure (BP) measurements of obese adolescents are normal during clinical examination, ambulatory blood pressure monitoring (ABPM) can be high, may include cardiac involvement and can also detect left ventricular mass indices (LVMI) value for obese adolescents to diagnose left ventricular hypertrophy (LVH). METHODS This study included 130 children (57 obese hypertensive, 36 obese normotensive, 14 normal weight hypertensive and 23 normal weight normotensive). Adolescents whose BP was measured during clinical examination, after 24-h BP was detected using ABPM, were examined with echocardiography for calculation of LVMI to determine cardiac risk factors for LVH. RESULTS There was a significant difference between the LVMI of obese-normotensive and obese-hypertensive adolescents, which showed the effect of obesity on LVMI independent of HT. Twenty (35.7%) of 56 obese adolescents with HT detected with ABPM had normal BP measurements during clinical examination. Dipper and nondipper features of obese adolescents were significantly higher in ABPM than those with normal body mass index. When the cutoff LVMI value for LVH was set at ≥38 g/m2.7, 38.9% of obese-normotensive and 50.9% of obese-hypertensive subjects had LVH; however, when the cutoff value was set at ≥51 g/m2.7, the rates were 2.8% and 19.3%, respectively. CONCLUSIONS Obesity is a risk factor for LVH independent of HT. To identify masked HT, 24-h ABPM and cardiac examination should be routinely performed in obese adolescents. Using a limit of LVMI ≥38 g/m2.7 in evaluating LVH secondary to HT in obese individuals may lead to an overestimated diagnosis rate of LVH.

The aim of the study was to assess myocardial damage in infants due to perinatal hypoxia.The findings of 29 infants with perinatal hypoxia and 20 healthy infants were compared. Blood gas analysis, serum lactate, cardiac troponin I (cTnI), troponin T (cTnT), creatine kinase-MB (CK-MB) and B-type natriuretic peptide (BNP) were evaluated. Echocardiography together with tissue Doppler imaging was performed.cTnT, CK-MB and BNP were higher in patients at the first day. There were positive correlations between the left ventricular (LV) myocardial performance index (MPI) and cTnT at first day and also at first month. LV ejection fraction and fractional shortening were lower at first day and at first month in patients. Myocardial systolic (Sm) and diastolic (Em and Am) velocities at all segments were lower at first day, and interventricular septum Sm, LV Sm, LV Em, right ventricular Em and LV Am were still lower at first month in patients. Isovolumic relaxation time at all segments together with LV MPI was higher at first day, ejection time values were lower and MPI values were higher at all segments at first month in patients.These findings demonstrated that the signs of myocardial damage due to perinatal hypoxia still present at first month.

Corticosteroids (CS) have anti-inflammatory and immuno-suppressive effects and which they are widely used for allergic diseases, autoimmune and immune-related diseases. CS cause rarely immediate type hypersensitivity reactions after administration of oral and parenteral. Incidence of reaction has been reported 0.3-0.5% (1, 2). Methyl-prednisolone (MPZ) is one of the most common corticosteroids that caused allergic reactions (3, 4). This article is protected by copyright. All rights reserved.

The Turkish Renal Tubular Disorders Working Group aimed to form a patient registry database and gathered demographic, clinical, and laboratory data in various hereditary renal tubular disorders (HRTDs). A questionnaire comprising HRTDs was sent to the centers. The cohort was composed of 226 patients (109 girls, 117 boys). The distribution of patients according to HRTD was as follows: 45.6% distal renal tubular acidosis (dRTA), 26.6% proximal RTA (pRTA), 3.5% type IV RTA, 21.7% Bartter's syndrome, and 2.6% Gitelman's syndrome. Cystinosis was the most common cause for renal Fanconi syndrome. Age at diagnosis was between 1 month and 16 years. Overall consanguinity rate was as high as 72%. Rate of affected siblings was 28.5%. pRTA and type IV RTA were more common in males. Most common presenting symptoms were failure to thrive, lack of appetite, and vomiting. Nephropathic cystinosis was the most common HRTD leading to renal failure, followed by dRTA. Hearing loss was present in 23% of patients with dRTA and 6.3% of patients with Bartter's syndrome. No other patient had hearing loss. Convulsions were noted in Bartter's syndrome patients with failure to thrive, especially in those with height below 3%. Polyuria and nephrocalcinosis were more common in dRTA patients with deafness compared with patients without deafness. This data reflected a high number of HRTDs as a result of high consanguinity rate in Turkey. Our data serve as a database of demographic, clinical, and laboratory features of this rare disease group.