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Background Familial Mediterranean fever (FMF) is an inherited disease characterized by recurrent bouts of fever and polyserositis and caused by MEditerranean FeVer gene (MEFV) mutations. Given the febrile characteristics of the disease one would expect higher frequency of febrile seizure in this group of pediatric patients. Objectives To evaluate the frequency of febrile seizure and related factors in patients with FMF. Methods The children with the diagnosis of FMF were enrolled in the study. Information including clinical features, type of mutation and the history of febrile seizure were all noted. Results A total of 97 patients, 43 (44.3%) girls with a median age of 7.93 ± 4.05 years (2–16) and a median follow-up period of 20.65 ± 24.33 months (6–135) were included in the study. The frequency of febrile seizure in children with FMF was found as 13.4%, which is higher than the general population [ p = 0.04, OR: 2.9 (95% CI: 1.0–8.5)]. The allele frequency of exon 2 mutations in MEFV genes was higher in the patients with febrile seizure ( p = 0.03). Frequency of FMF related clinical findings (fever, abdominal pain, arthralgia/myalgia, arthritis, chest pain and erysipelas-like erythema) was similar between the two groups. However, frequency of headache was higher in the patients with febrile seizure ( p = 0.014). Conclusion The frequency of febrile seizure in children with FMF was found to be higher than the general population. Although this finding may be related to high fever during FMF attacks in individuals with genetic propensity of febrile seizure, it may also be a neurologic complication of FMF. [ABSTRACT FROM AUTHOR]

Congenital nephrotic syndrome (CNS) is a genetic disease that is present in the antenatal period or during the first 3 months of life. In this study, we aimed to compare growth parameters of patients with CNS who received kidney transplants and either (1) had a normal glomerular filtration rate (GFR) at the time of transplant or (2) chronic kidney disease (CKD) at the time of transplant. Patients with a diagnosis of CNS who had a minimum follow-up period of 6 months were evaluated retrospectively. Children at stages 4 or 5 CKD or patients receiving dialysis during the pretransplant period were defined as group 1; patients with normal GFR at the time of transplantation were classified as group 2. Short stature and low weight were defined as less than −2 standard deviation scores (SDS) for height and weight according to their age. A total of 17 patients were included in the study. Thirteen of 17 patients had NPHS1 gene mutations. Group 1 and group 2 consisted of 8 and 9 patients, respectively. Mean height SDS and mean weight SDS in group 2 were higher than group 1 in the pretransplant period (−4.34 ± 1.74 vs −2.84 ± 1.56; P =.011 and −3.54 ± 0.93 vs −1.83 ± 1.13; P =.008). In the post-transplant period, the significant difference in height SDS continued in favor of group 2 (−3.16 ± 1.11 vs −1.16 ± 0.87; P =.002). The short stature rate was 83% in group 1 and 72% in group 2 in the pretransplant period (P =.62), and 83% in group 1 and 27% in group 2 in the post-transplant period (P =.02). Early renal transplantation seems to be effective for optimal height gain in children with CNS. • Growth retardation is common in congenital nephrotic syndrome. • The treatment of congenital nephrotic syndrome is controversial. • We investigated the effect of early kidney transplantation on growth. • Short stature was common in patients who received transplants and later developed chronic kidney disease. • In the post-transplant period, the low-weight rate was improved in both groups. [ABSTRACT FROM AUTHOR]

• The prevalence of NPSLE is 13.5% in pediatric SLE patients in Turkey. • Clinical and laboratory features of SLE and NP involvement are grouped in five clusters. • APA positivity, high SLEDAI scores and plasmapheresis are risk factors for neurological sequelae. Neuropsychiatric (NP) involvement is a restricted area in juvenile-onset systemic lupus erythematosus (jSLE). To investigate the prevalence, demographic and clinical features, and outcomes of the neurological involvement in the Turkish jSLE population. This study was based upon 24 referral centers' SLE cohorts, multicenter and multidisciplinary network in Turkey. Patient data were collected by a case report form which was standardized for NP definitions according to American Collage of Rheumatology (ACR). Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index (SDI) neuropsychiatric part was used to determine NP damage. Variables were evaluated Ward's hierarchical clustering analyses, univariate, and multivariate logistic regression analyses. A hundred forty-nine of 1107 jSLE patients had NP involvement (13.5%). The most common NPSLE findings were headache (50.3%), seizure (38.3%), and acute confusional state (33.6%). Five clusters were identified with all clinical and laboratory findings. The first two clusters involved neuropathies, demyelinating diseases, aseptic meningitis, and movement disorder. Cluster 3 involved headache, activity markers and other SLE involvements. Idiopathic intracranial hypertension, cerebrovascular disease, cognitive dysfunction, psychiatric disorders and SLE antibodies were in the fourth, and acute confusional state was in the fifth cluster. In multivariate analysis, APA positivity; OR: 2.820, (%95CI: 1.002–7.939), P : 0,050, plasmapheresis; OR: 13.804 (%95CI: 2.785–68.432), P : 0,001, SLEDAI scores; OR: 1.115 (%95CI: (1.049–1.186), P : 0,001 were associated with increased risk for neurologic sequelae. We detected the prevalence of juvenile NPSLE manifestations in Turkey. We have identified five clusters that may shed light pathogenesis, treatment and prognosis of NP involvements. We also determined risk factors of neurological sequelae. Our study showed that new definitions NP involvements and sequelae for childhood period are needed. [ABSTRACT FROM AUTHOR]