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Background The most well-known and common long-term complication in children with renal parenchymal scarring (RPS) is hypertension (HT). The present study aimed to evaluate the presence of HT in children with RPS based on ambulatory blood pressure monitoring (ABPM) and to compare the patients' blood pressure (BP) to that in healthy controls matched for age, gender, and BMI. Methods The study included 55 patients aged < 18 years diagnosed with RPS who were followed up for [greater than or equal to] 1 year and 48 healthy controls matched for age, gender, and BMI. Results Mean age in the RPS group was 12.8 ± 3.3 years, and 49.1% of the group were female. Among the RPS patients, 28 were diagnosed with HT based on ABPM, of which 18 (32.7%) had an office BP 95 percentile for age, gender, and height. The difference in detection of HT based on ABPM between the two groups was significant (P = 0.00). Conclusions Early diagnosis of HT via ABPM can help prevent development of kidney failure and cardiovascular disease in patients with RPS, significantly reducing the rates of morbidity and mortality. All children with RPS should be evaluated via ABPM, even if office BP measurements are normal. Graphical abstract, Author(s): Deniz Karakaya [sup.1] [sup.2] , Evrim Kargin Çakici [sup.1] , Fatma Yazilitas [sup.1] , Tülin Güngör [sup.1] , Evra Çelikkaya [sup.1] , Esra Baglan [sup.1] , Mehmet Bülbül [sup.1] [...]

Background Children born with unilateral renal agenesis (URA) are thought to have a risk of developing hypertension, proteinuria, and progressive chronic kidney disease (CKD). The present study aimed to evaluate the long-term prognosis and clinical characteristics of children with URA. Methods The study included 171 patients aged < 18 years diagnosed as URA who were followed-up for [greater than or equal to] 1 year and 121 healthy controls matched for age, gender, and BMI. Results Median age at diagnosis was 2 years (IQR: 1 month-16 years) and the incidence of URA in males (65.4%) was higher than in females. Among the patients, 21 (12.2%) had other urinary system anomalies. It was noted that 2.3% of the patients had proteinuria, 15.2% had hyperfiltration, and 2.9% had CKD. Hypertension based on ambulatory blood pressure monitoring (ABPM) was diagnosed in 18 (10.5%) of the patients, of whom 10 had masked hypertension. Diastolic blood pressure in the URA patients was significantly higher than in the healthy controls. The incidence of hypertension and CKD was significantly higher in the patients with other urinary system anomalies. Conclusions Patients with a single functional kidney should be periodically evaluated throughout their lifetime for urine protein, blood pressure, and kidney functions. The most remarkable finding of this study is the importance of the use of ABPM for evaluating blood pressure in pediatric URA patients, especially for the detection of masked hypertension and the non-dipper phenomenon, which cannot be achieved with office blood pressure measurement., Author(s): Tülin Güngör [sup.1] , Fatma Yazilitas [sup.1] , Evrim Kargin Çakici [sup.1] , Ayse Seçil Eksioglu [sup.2] , Evra Çelikkaya [sup.1] , Deniz Karakaya [sup.1] , Esra Baglan [sup.3] [...]

Objectives: We aimed to outline the demographic data, clinical spectrum, and treatment approach of sarcoidosis in a large group of patients and sought to figure out the variations of early-onset (EOS) and late-onset paediatric sarcoidosis (LOS). Methods: The study followed a retrospective-descriptive design, with the analysis of medical records of cases diagnosed as paediatric sarcoidosis. Results: Fifty-two patients were included in the study. The median age at disease onset and follow-up duration were 83 (28.2–119) and 24 (6–48) months, respectively. Ten (19.2%) cases had EOS (before 5th birthday) and 42 (80.7%) cases had LOS. The most common clinical findings at the time of the disease onset were ocular symptoms (40.4%) followed by joint manifestation (25%), dermatological symptoms (13.5%), and features related to multi-organ involvement (11.5%). Anterior uveitis was the most common (55%) one among ocular manifestations. Patients with EOS displayed joint, eye, and dermatological findings more commonly than patients with LOS. The recurrence rate of disease in patients with EOS (5.7%) and LOS (21.1%) were not statistically different (P = .7). Conclusions: Patients with EOS and LOS may present with variable clinical features and studies addressing paediatric sarcoidosis cases in collaboration between disciplines will enhance the awareness of this rare disease among physicians and assist early diagnosis with lesser complications. [ABSTRACT FROM AUTHOR]

Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome and familial Mediterranean fever (FMF) are autoinflammatory disorders typically characterized by recurrent fever attacks. These recurrent fever attacks can lead to depression and anxiety in mothers of these patients. This study aimed to compare the depression and anxiety levels in mothers of PFAPA and FMF patients. This study is a cross-sectional observational study. 48 mothers of children with FMF and 70 mothers of children with PFAPA participated in the study. Mothers in these two groups were compared in terms of anxiety and depression by using the validated Beck Depression Inventory (BDI) and Beck Anxiety Inventory (BAI). Depression and anxiety scores of mothers were found to be similar in FMF and PFAPA groups. Moderate or high level of anxiety was seen in 32% of mothers of patients with PFAPA and 27% of mothers of patients with FMF. 23% of mothers of patients with PFAPA were evaluated as having moderate or severe depression, and 18% of mothers of patients with FMF were evaluated as having moderate depression. There was no statistically significant difference between the duration, frequency of attacks, recurrent hospitalizations, sociodemographic characteristics, and inventory scores. Depression and anxiety scores of mothers with children diagnosed with FMF and PFAPA are similar. These two diseases affect families psychosocially at similar levels. It is important to provide psychosocial support to families. [ABSTRACT FROM AUTHOR]

Objectives: Familial Mediterranean fever (FMF) is an auto-inflammatory disease that causes recurrent episodes of fever, abdominal pain, chest pain, and arthritis. Although FMF is well known, protracted febrile myalgia syndrome (PFMS) is a clinical condition that is rare and difficult to diagnose than other symptoms of FMF. PFMS causes fever, myalgia, and acute phase reactant elevation that lasts 2-4 weeks if corticosteroid treatment is not given. In some cases, fever may not be seen. The purpose of this report is to share our experience with PFMS patients in our clinic. Methods: This is an observational, retrospective, single-centre study. We evaluated patients who had been diagnosed with PFMS at our paediatric rheumatology clinic. Results: Protracted febrile myalgia syndrome was observed in 14 patients. Nine of the patients were female. The median age at the time of diagnosis of PFMS was 10 years. Only three patients had previously been diagnosed with FMF. Most of our patients were patients who had no previous complaint of FMF. PFMS attack was seen as the first clinical manifestation of FMF in 11 patients. Two patients who did not respond to steroid treatment improved with anakinra treatment. Conclusions: PFMS is a rare condition of FMF disease. It may be the first clinical manifestation of FMF disease. Fever may not be seen in all patients. Clinicians should be aware of this situation. [ABSTRACT FROM AUTHOR]

Aim: The aim of this study was to compare the clinical and laboratory features, treatment choices and responses, and outcomes between patients with clinically amyopathic juvenile dermatomyositis (CAJDM) and classical juvenile dermatomyositis (JDM). Methods: We retrospectively reviewed the medical records of patients with CAJDM and JDM, and compared the 2 groups' clinical and laboratory data, treatment agents and responses, and outcomes. Results: There were 38 JDM and 12 CAJDM patients, with female dominance. There was a higher delay time in diagnosis for CAJDM (P = 0.000). Compared to other clinical symptoms of JDM, muscle weakness and myalgia were more prominent in JDM than in CAJDM (P = 0.000). The absolute lymphocyte count was lower (P = 0.034) in patients with JDM than in those with CAJDM. Anti‐p155/140 (TIF‐1) antibody positivity was significantly more common in the CAJDM group (P = 0.000), while anti‐NXP2 antibody was more common in the JDM group (P = 0.046). In terms of treatment, pulse corticosteroid usage was more common in patients with JDM than in those with CAJDM (P = 0.000). Conclusion: Close clinical follow‐ups with effective treatments are important to prevent complications, such as calcinosis and skin ulcers, that may develop in patients with poorly controlled CAJDM. Anti‐p155/140 antibodies may be a useful indicator for detecting amyopathic forms of dermatomyositis in children. [ABSTRACT FROM AUTHOR]

Our aim in this study was to reveal the clinical features of pediatric uveitis in the pandemic period and to compare it with the pre-pandemic era. This retrospective study included 187 children diagnosed with uveitis between the 11th of March 2017 and the 11th of March 2022. The patients were divided into two groups based on the date of diagnosis as follows; Group 1: Patients diagnosed in the pre-pandemic period (11th March 2017–11th March 2020); Group 2: Patients diagnosed in the pandemic period (12th March 2020–11th March 2022). Demographic data, characteristics of uveitis, underlying diseases, systemic treatment modalities, and complications were compared between the two groups. A total of 187 (pre-pandemic 71, and pandemic 114) pediatric uveitis patients were recruited to the study. Fifty one percent (51%) of the patients were female. The number of patients diagnosed with uveitis increased approximately twice during the pandemic period compared to the pre-pandemic period. The frequency of anterior uveitis was found to be significantly higher in the pandemic period than in the pre-pandemic period (p = 0.037). It was mostly presented as symptomatic uveitis. There was a decrease in the diagnosis of JIA-related uveitis. ANA positivity increased in the pandemic period (p = 0.029). The response to treatment was better and the complication rate decreased in the pandemic period. The present study involved a large number of pediatric patients with uveitis. There are some differences in the characteristics of pediatric uveitis cases comparing the pandemic period and the pre-pandemic period. This increased frequency and changing clinical features of pediatric uveitis seems to be a result of COVID-19 infection. [ABSTRACT FROM AUTHOR]

OBJECTIVE: This study aimed to look for the initial manifestations of juvenile dermatomyositis (JDM), give follow-up results, and search for risk factors for the development of calcinosis. METHODS: The files of children with JDM diagnosed between 2005 and 2020 were reviewed retrospectively. RESULTS: The study included 48 children, 33 girls and 15 boys. The mean age at the onset of the disease was 7.6±3.6 years. The median duration of follow-up was 35 (6-144) months. Twenty-nine patients (60.4%) had monocyclic, 7 (14.6%) patients had polycyclic, and 12 (25%) patients had chronic persistent disease course. At the time of enrollment, 35 (72.9%) patients were in remission, while 13 (27.1%) patients had active disease. Calcinosis developed in 11 patients (22.9%). Children having myalgia, livedo racemosa, skin hypopigmentation, lower alanine aminotransferase (ALT) levels, and higher physician visual analog scores at the time of diagnosis had a higher risk for calcinosis. Calcinosis was also more common in children with diagnostic delay and chronic persistent disease course. None of these parameters remained independent risk factors for calcinosis in multivariate logistic regression analysis. CONCLUSION: The rate of mortality has decreased dramatically over decades in JDM, but the rate of calcinosis has not changed proportionately. Long duration of active, untreated disease is accepted as the main risk factor for calcinosis. We have seen that calcinosis was more common in children having myalgia, livedo racemosa, skin hypopigmentation, lower ALT levels, and higher physician visual analog scores at the time of diagnosis. [ABSTRACT FROM AUTHOR]

Objective: Uveitis, the most common extra-articular manifestation of juvenile idiopathic arthritis (JIA), is most commonly found in children with oligoarticular type and polyarticular rheumatoid factor (-) JIA. Close follow-up of these children by pediatric rheumatologists and ophthalmologists is important because of the risk of blindness if these cases are untreated. This study aims to evaluate the frequency of uveitis, demographic characteristics, and complications in children with JIA. Material and Methods: Among the patients with JIA who were followed up at the Pediatric Rheumatology Clinic of Dr Sami Ulus Maternity, Child Health and Diseases Training and Research Hospital between January 2017 and July 2021, those with uveitis were included in the study. Location of uveitis, laterality, age at onset of uveitis, complications of uveitis, duration of follow up, laboratory findings, medications used, and status of uveitis at the time of data collection were obtained from the patients' files. Results: Uveitis was observed in 34 (7.1%) of the 473 children with JIA included in the present study. Twenty three patients were female (67.6%). The age at diagnosis of JIA was 5.9±5.1 years, and the age at diagnosis of uveitis was 7.5±4.2 years. The most common form of JIA was the persistent oligoarticular form. Compared with the age of onset of arthritis in all JIA patients, the age of onset of arthritis was lower in patients with JIA-associated uveitis (7.8±4.6 years vs. 5.9±5.1 years). Anatomically, all patients had anterior uveitis. Antinuclear antibody positivity was more common in children with JIA-associated uveitis (47.1%) than all of our patients with JIA (19%). In one of the patients, arthritis and uveitis were diagnosed simultaneously. Posterior synechia was found in three patients (8.8%). Arthritis was the first symptom in 27 patients (79.4%) and uveitis in six patients (17.6%), cataract in five patients (14.7%), glaucoma in two patients (5.9%), and blindness in one eye (2.9%). Conclusion: Uveitis is the most common extra-articular complication of JIA and has sight-threatening complications which may lead to irreversible visual loss. The findings of this study suggest that the joint effort of pediatric rheumatologists and ophthalmologists is needed to diagnose these children promptly and treat them appropriately. [ABSTRACT FROM AUTHOR]

Wide spread availability of safe and effective vaccines for COVID-19 in all countries is the best hope to end the COVID-19 pandemic. However, in developing countries, the hesitancy of the society about vaccination is an important problem in terms of public health. This study aimed to investigate the acceptability and tolerability of COVID-19 vaccines in the pediatric population diagnosed with rheumatic disease, as well as the attitudes toward these vaccines. This is an observational, cross sectional, single center study. Pediatric patients with at least one diagnosis of rheumatic disease were included in this study to investigate patient and family acceptability and safety of COVID-19 vaccines. A total of 228 patients with rheumatic disease were included in this study. Ninety nine (43.4%) of the patients were juvenile idiopathic arthritis. One hundred and five (46%) of the patients were using biological agent treatment for their rheumatic disease, whereas 123 (54%) of the patients were not. No serious adverse effect related to the COVID-19 vaccine were observed in any of the patients. No disease activation was observed in any of them. There are only a few studies evaluating of the safety and disease flare of COVID-19 vaccines in children with rheumatic disease. Although this study has some limitations, such as the small sample size of patients with different diagnoses, it appears that there is no increase in COVID-19 vaccination-related harms in the patients with rheumatic disease. [ABSTRACT FROM AUTHOR]

Aim: Systemic lupus erythematosus (SLE) is the prototype of chronic autoimmune diseases. One-fifth of all SLE disease occurs in childhood. In this study, it was aimed to compare the SLE classification criteria that have been used so far. These are the ACR (American College of Rheumatology) 1997, SLICC (Systemic Lupus International Collaborating Clinics) 2012, and EULAR (European League against Rheumatism) / ACR 2019 criteria. Materials and Methods: Patients with 34 pediatric SLE and 32 antinuclear antibodies (ANA) (+) control groups who were followed up in Ankara Dr. Sami Ulus Obstetrics and Children's Hospital Pediatric Rheumatology Clinic were recruited to study. All of these patients were diagnosed by three pediatric rheumatologists. The control group consisted of ANA (+) patients with other rheumatologic diseases. Results: The sensitivities of the ACR 1997, SLICC 2012, and EULAR/ACR 2019 criteria were 76.5%, 94.1%, and 88.2%, respectively. The specificities of the criteria for ACR 1997, SLICC2012, and EULAR/ACR 2019 were 93.8%. Conclusion: Although SLICC 2012 showed the best sensitivity, all three classification criteria had the same specificity. [ABSTRACT FROM AUTHOR]

Objectives: To determine the rate of achieving The Lupus Low Disease Activity State (LLDAS) in children with systemic lupus erythematosus (SLE) for tracing pertinent treatment modalities. Methods: A total of 122 juvenile-onset SLE (jSLE) patients from six pediatric rheumatology centers in Turkey were enrolled in the study. LLDAS-50 was defined as encountering LLDAS for at least 50% of the observation time. According to the achievement of LLDAS-50, clinical features, immunological profiles, and treatments of patients with jSLE have been revealed. Results: LLDAS of any duration was achieved by 82% of the cohort. Although only 10.8% of the patients achieved remission, 68.9% reached LLDAS-50. A significant difference was found between patients who reached LLDAS-50 and those who did not, in terms of the time to reach low-dose corticosteroid treatment (p = 0.002), the presence of subacute cutaneous findings (p = 0.007), and the presence of proteinuria (p = 0.002). Both of the groups were under similar treatment approaches. However, the number of patients being treated with corticosteroids at the last visit was found to be significantly higher in patients who achieved LLDAS-50 (p <0.001). Conclusion: Targeting LLDAS in jSLE, even with long-term, low-dose corticosteroid use, seems to be an achievable goal in clinical practice. [ABSTRACT FROM AUTHOR]

Background: Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatologic disease of childhood. The various subtypes of JIA differ in clinical features and treatments. The aim of this study was to analyze the frequency of JIA subtypes, patient demographic and clinical features, as well as the rates of macrophage activation syndrome, uveitis, and remission in Turkish JIA patients treated at a single center, and to compare the findings to those in the literature. Methods: The files of all JIA patients treated at our pediatric rheumatology department between January 2017 and January 2019 were retrospectively reviewed. Patient demographic, clinical, and laboratory data were obtained from the patients' files and the hospital database. Results: The study included 305 patients (180 females) with a mean age at onset of 7.83 ± 4.62 years. Among all the JIA subtypes, the most frequent was oligoarthritis (41.6%), followed by enthesitis‐related arthritis (29.2%), rheumatoid factor (RF)‐negative polyarthritis (13.4%), systemic arthritis (9.5%), RF‐positive polyarthritis (2.6%), psoriatic arthritis (2.0%), and undifferentiated arthritis (1.6%). At the time of data collection, 278 patients (91.0%) were in remission, whereas 27 patients (9.0%) had active disease. Macrophage activation syndrome developed in 12 of the 29 (41.0%) systemic arthritis. Uveitis was noted in 32 (10.0%) patients. Biological agents were administered in 142 of the patients. Conclusions: The available data indicate that JIA as a whole is a heterogeneous disease with significant variability in course and long‐term outcome. As such, each patient should be evaluated according to his / her disease subtype. [ABSTRACT FROM AUTHOR]

Aim: The aim of this study was to determine the demographic, clinical, treatment, and outcome features of pediatric noninfectious uveitis patients at a Turkish tertiary center.Materials and methods: This retrospective cohort study included 101 pediatric patients with noninfectious uveitis. Location of uveitis, laterality, age at onset of uveitis, complications of uveitis, duration of follow-up, associated systemic diseases, laboratory findings, medications used, and status of uveitis at the time of data collection were obtained from the patients' files. The patients were divided into two groups according to etiology of uveitis, as follows; group 1: idiopathic noninfectious uveitis; group 2: noninfectious uveitis in association with an underlying systemic disease. Clinical findings were compared between the two groups.Results: Mean age at diagnosis of uveitis was 9.36 ± 4.24 years and mean duration of follow-up was 48.4 ± 9.2 months. Anterior uveitis was the most common form, accounting for 69.3% (n = 70) of the patients. There were 67 (66.3%) patients in group 1 and 34 (33.7%) patients in group 2. Mean age at diagnosis of uveitis was lower in group 2 (p < 0.05). Although gender, type of inflammation, laterality of eye involvement, and mean age at initiation of biological treatment did not differ between the groups; symptomatic uveitis was more common in group 1, whereas anterior uveitis was also more common in group 2 (p < 0.05). At the time of data collection 16 (15.8%) of the patients had active uveitis. Ocular complications were observed fewer in idiopathic noninfectious uveitis group than noninfectious uveitis associated with an underlying systemic disease (p < 0.05). Biological therapy was administered in 26.8% of the patients in group 1, versus 67.6% of those in group 2. Ocular complications were observed in 22.8% of the patients at presentation or during the follow-up.Conclusion: Herein a large retrospective cohort of noninfectious pediatric uveitis has been described. The findings indicate that noninfectious idiopathic uveitis is characterized by more symptomatic, later onset, and fewer complications than noninfectious uveitis associated with an underlying systemic disease. [ABSTRACT FROM AUTHOR]

Aim: Colchicine is the primary treatment for familial Mediterranean fever (FMF). Several colchicine preparations are currently using available globally. This study aimed to describe the demographic, clinical, and genetic features of FMF patients treated with multiple colchicine preparations. Materials and methods: The records of patients diagnosed as FMF and followed-up by our pediatric rheumatology department were retrospectively evaluated. Patients that were treated with multiple colchicine preparations were included. Patient demographic, clinical, and laboratory data were obtained from the patient files and the hospital patient database. The daily colchicine dose and FMF attack frequency before and after switching from domestically produced (DP)-coated colchicine tablets to foreign produced (FP)-compressed colchicine tablets were compared. Results: The study included 35 pediatric FMF patients (22 males and 13 females) with a mean age of 12.85 ±4.62 years. Mean age at disease onset was 3.66 ±2.11 years, versus 5.57 ±4.28 years at diagnosis. The mean attack frequency before and after treatment with FP-compressed colchicine tablets was 9.50 ±4.46 and 1.85±1.41/year, respectively (p < .001). The mean attack duration significantly decreased in all the patients treated with FP-compressed colchicine tablets (p < .001). The difference in acute phase reactants during the attack-free periods before and after FP-compressed colchicine tablet treatment was significant (p < .001). Conclusion: The present findings show that pediatric FMF patients with ongoing attacks and elevated acute phase reactants during attack-free periods while treated with DP-coated colchicine tablets might benefit from switching to FP-compressed colchicine tablets before initiating biologic treatment. Long-term controlled studies are warranted, so as to obtain better evidence of the benefits of multiple col-chicine preparations in pediatric FMF patients. [ABSTRACT FROM AUTHOR]

Pediatric-onset systemic lupus erythematosus is among the prototypic systemic autoimmune diseases seen in children. Although the neuropsychiatric involvement rate varies during the course of the disease, it is an important cause of morbidity and mortality. The clinical picture of neuropsychiatric SLE (NPSLE) is highly variable, and neurological features can precede systemic findings, leading to some diagnostic difficulties. NPSLE requires early and aggressive immunosuppressive therapy. Some patients can be resistant to immunosuppressive therapy. Chorea is a rare manifestation that occurs in 1.2%–2% of SLE patients and can result from an immunologically mediated mechanism, antiphospholipid autoantibodies or ischemia. Herein we present the first case of pediatric-onset SLE diagnosed with central nervous system involvement and treated with Zipper method. The Zipper method is a new immunomodulation treatment. The clinical findings of the patient, which were resistant to corticosteroids and cyclophosphamide, resolved by this novel treatment. [ABSTRACT FROM AUTHOR]

Isotretinoin is widely used in severe acne. Isotretinoin has many side effects. Sacroiliitis is one of these side effects and has been rarely reported in the children. Herein, we present two children with isotretinoin‐induced sacroiliitis resistant to anti‐rheumatic drugs and successfully treated with adalimumab. [ABSTRACT FROM AUTHOR]

Lupus anticoagulant hypoprothrombinaemia syndrome (LAC-HPS) is a rare disorder, defined by the presence of an acquired factor II (FII) deficiency and lupus anticoagulant (LAC) (Rapaport et al. [8]). Discussion Lupus anticoagulant is an antiphospholipid antibody directed against the phospholipid-protein complexes, which inhibit the phospholipid-dependent coagulation tests I in vitro i (Rapaport et al. [8]). Antiphospholipid antibodies: anticardiolipin and the lupus anticoagulant in systemic lupus erythematosus (SLE) and in non-SLE disorders. [Extracted from the article]

Objectives: To investigate the severe haematological involvement in children with SLE and assess its clinical associations, treatments, outcome and damage accrual., Methods: The medical charts of children with SLE in whom haematological involvement was observed were reviewed. Severe haematological indices were defined as autoimmune haemolytic anaemia with a haemoglobin concentration < 8 g/dL, thrombocyte count < 30 000/µL, and neutrophil count < 500/µL., Results: Among the 224 patients included, 102 (45.5%) displayed severe indices, predominantly at the initial involvement, and most frequently as severe anaemia in 54 (24.1%) and severe thrombocytopenia in 45 (20.1%). Disease activity did not differ according to the presence of severe disease indices. In addition, the presence of severe indices at initial involvement did not affect the damage accrual. However, a higher rate of damage (51.1% vs. 29.9%, p = 0.002) and steroid-induced damage (28.9% vs. 8.2%, p < 0.001) was evident in patients with flares of the haematological system. Regression analysis revealed that rituximab treatment during the initial episode (OR:4.5, p = 0.006) and the presence of anticardiolipin antibodies (OR:2.3, p = 0.014) significantly increases the odds for haematological system flare. However, severe indices at initial involvement did not increase the odds of a haematological flare., Conclusion: Severe haematological indices at onset are common but not related with disease outcomes. Prevention of flares is important to improve outcomes, and a more rigorous maintenance strategy would benefit most to children who display haematological indices refractory to conventional immunosuppressants and those with anti-cardiolipin antibodies., (© The Author(s) 2024. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For permissions, please email: journals.permissions@oup.com.)

Objectives: Familial Mediterranean fever (FMF) is an auto-inflammatory disease that causes recurrent episodes of fever, abdominal pain, chest pain, and arthritis. Although FMF is well known, protracted febrile myalgia syndrome (PFMS) is a clinical condition that is rare and difficult to diagnose than other symptoms of FMF. PFMS causes fever, myalgia, and acute phase reactant elevation that lasts 2-4 weeks if corticosteroid treatment is not given. In some cases, fever may not be seen. The purpose of this report is to share our experience with PFMS patients in our clinic., Methods: This is an observational, retrospective, single-centre study. We evaluated patients who had been diagnosed with PFMS at our paediatric rheumatology clinic., Results: Protracted febrile myalgia syndrome was observed in 14 patients. Nine of the patients were female. The median age at the time of diagnosis of PFMS was 10 years. Only three patients had previously been diagnosed with FMF. Most of our patients were patients who had no previous complaint of FMF. PFMS attack was seen as the first clinical manifestation of FMF in 11 patients. Two patients who did not respond to steroid treatment improved with anakinra treatment., Conclusions: PFMS is a rare condition of FMF disease. It may be the first clinical manifestation of FMF disease. Fever may not be seen in all patients. Clinicians should be aware of this situation., (© Japan College of Rheumatology 2022. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease manifesting phenotypic heterogeneity. It is a clinically diagnosed disease supported by MEditerranean FeVer (MEFV) gene mutation analysis. However, the phenotype-genotype correlation is not yet established clearly. We aimed to determine the clinical findings, phenotype-genotype correlation, and treatment outcomes within a large pediatric FMF cohort. The medical charts of children with FMF who were diagnosed and followed up at the eight pediatric rheumatology units were reviewed retrospectively. All patients in the cohort were analyzed for sequence variants in exon 2,3,5 and 10 of the MEFV gene. Patients without any mutations or with polymorphisms including R202Q were excluded. A total of 3,454 children were involved in the study. The mean ± standard deviation of current age, age at symptom onset, and age at diagnosis were 12.1 ± 5.2, 5.1 ± 3.8, and 7.3 ± 4.0 years, respectively. Of 3,454 patients, 88.2% had abdominal pain, 86.7% had fever, 27.7% had arthritis, 20.2% had chest pain, 23% had myalgia, and 13.1% had erysipelas-like erythema. The most common MEFV mutation patterns were homozygous (32.5%) and heterozygous (29.9%) mutations of exon 10. Homozygous M694V was present in 969 patients (28.1%). Allele frequencies of common mutations were M694V (55.3%), M680I (11.3%), V726A (7.6%), and E148Q (7.2%). Children carrying homozygous or compound heterozygous exon 10 mutations had an earlier age of disease onset (4.6 vs. 5.6 years, p = 0.000) and a higher number of attacks per year (11.1 vs. 9.6, p = 0.001). Although 8% of the patients had a family history of amyloidosis, 0.3% ( n = 11) had the presence of amyloidosis. M694V homozygosity was detected in nine patients who developed amyloidosis. Colchicine resistance was present in 4.2% of our patients. In this largest pediatric cohort reviewed and presented to date, patients with exon 10 mutations, particularly the M694V homozygous mutation, have been demonstrated earlier disease onset, annual attack count, and more frequent colchicine-resistant cases. Although E148Q is considered as a polymorphism in some populations, it was identified as a disease-causing mutation in our cohort. Secondary amyloidosis is still happening in adults however, it is extremely rare among children, presumably due to increased awareness, tight control, and the availability of anti-IL1 agents in colchicine-resistant cases., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The reviewer EB declared a past co-authorship with several of the authors KÖ, EB, HS, GY, FÇ, SK, SO, FD, MÇ, NA, and BS and reviewer ES declared a past collaboration with several of the authors HS, SK, SO, FD, NA, and BS to the handling editor at the time of the review., (Copyright © 2022 Öztürk, Coşkuner, Baglan, Sönmez, Yener, Çakmak, Demirkan, Tanatar, Karadag, Ozdel, Demir, Çakan, Aktay Ayaz and Sözeri.)