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Background. Fatigue is a common problem in pediatric rheumatic diseases and is associated with poor quality of life. However, no validated methods are available to measure fatigue in adolescents with familial Mediterranean fever (FMF). The aim of the study was to establish validity and reliability for the child self-report PedsQL Multidimensional Fatigue Scale (PedsQL-MFS) and to investigate the effects of physical characteristics, diseaserelated characteristics, sleep quality/duration, and the amount of physical activity on fatigue in adolescents with FMF. Methods. Seventy-one adolescents with FMF (13-18 years) were included. Children were examined regarding physical- and disease-related characteristics and completed patient-reported outcome measures (PROMs) regarding sleep quality/duration, physical activity levels, and fatigue. PedsQL-MFS was re-completed within the following 7-14 days. Results. PedsQL-MFS demonstrated excellent test-retest reliability (ICC in 95% CI: 0.877-0.958) and internal consistency (Cronbach's α: 0.928). All items contributed to the total score (item-total correlation >0.3). PedsQLMFS scores were significantly correlated to fatigue (r: -0.666, p<0.001), physical activity (r: 0.373, p<0.001), sleep quality (rs: 0.678, p<0.001), and sleep duration (r: 0.473, p<0.001). Being female, having attacks in the last six months, a sleep duration of less than seven hours, and engaging in less physical activity resulted in higher fatigue. Conclusions. PedsQL-MFS seems to be feasible for assessing fatigue in adolescents with FMF. Sex, recent attacks, sleep, and physical activity should be taken into consideration in the fatigue management of patients with FMF. [ABSTRACT FROM AUTHOR]

Background. Alport syndrome (AS) is characterized by progressive kidney disease. There is increasing evidence that renin-angiotensin-aldosterone system (RAAS) inhibition delays chronic kidney disease (CKD) while the effectiveness of immunosuppressive (IS) therapy in AS is still uncertain. In this study, we aimed to analyze the outcomes of pediatric patients with X-linked AS (XLAS) who received RAAS inhibitors and IS therapy. Methods. Seventy-four children with XLAS were included in this multicenter study. Demographic features, clinical and laboratory data, treatments, histopathological examinations, and genetic analyses were analyzed retrospectively. Results. Among 74 children, 52 (70.2%) received RAAS inhibitors, 11 (14.9%) received RAAS inhibitors and IS, and 11 (14.9%) were followed up without treatment. During follow-up, glomerular filtration rate (GFR) decreased <60 ml/min/1.73 m2 in 7 (9.5%) of 74 patients (M/F=6/1). In male patients with XLAS, kidney survival was not different between RAAS and RAAS+IS groups (p=0.42). The rate of progression to CKD was significantly higher in patients with nephrotic range proteinuria and nephrotic syndrome (NS), respectively (p=0.006, p=0.05). The median age at the onset of RAAS inhibitors was significantly higher in male patients who progressed to CKD (13.9 vs 8.1 years, p=0.003). Conclusions. RAAS inhibitors have beneficial effects on proteinuria and early initiation of therapy may delay the progression to CKD in children with XLAS. There was no significant difference between the RAAS and RAAS+IS groups in kidney survival. AS patients presenting with NS or nephrotic range proteinuria should be followed up more carefully considering the risk of early progression to CKD. [ABSTRACT FROM AUTHOR]

Background. Chronic kidney disease (CKD) may lead to increase in serum levels of peptide hormones as a result of changes in peripheral metabolism. The pathogenesis of uremic hyperprolactinemia in CKD is not fully understood. Plasma prolactin levels are elevated in women, pubertal girls, and also in men with chronic kidney disease. But this is not comon in prepubertal boys. Also in prepubertal children and postmenopausal women, hyperprolactinemia rarely results in galactorrhea. We aimed to discuss hyperprolactinemia and galactorrhea in a 12-year-old male with CKD. Case. A twelve-year-old boy with chronic kidney disease (CKD) suffered from bilateral galactorrhea. He was on follow-up at Pediatric Nephrology Department from the age of two due to bilateral dysplastic kidney. On physical examination, his weight was - 0.59 SDS, height was -2.82 SDS, Blood pressure was 115 / 72 (75p), stretched penis length was 6 cm, testicular volume was 3mL / 3mL, pubic hair was Tanner Stage 1, breast examination did not reveal plaque on bilateral breast. He was receiving recombinant erythropoietin, sodium bicarbonate, polystyrene sulfonate, calcium acetate, and calcitriol treatments. Glomerular filtration rate was 23ml/min/1.73 m2 (CKD stage IV). Serum prolactin (PRL) was >200 µg/L (N, 2.64-13.13). The pituitary adenoma was excluded with pituitary and cranial magnetic resonance imaging (gadolinium). Cabergoline (0.5 mg/twice weekly) was initiated to decrease PRL levels and reduce galactorrhea. In the second week of treatment, serum PRL level was suppressed (0.4 µg/L) and galactorrhea was completely resolved. Conclusions. Although uremic hyperprolactinemia is very rarely seen in childhood, it is important to evaluate, and initiate an appropriate treatment since it is associated with delayed puberty and infertility in adulthood in many cases. [ABSTRACT FROM AUTHOR]

Background. We aimed to evaluate the predictability of extended-spectrum beta-lactamase (ESBL)-producing bacteria (PB) with inflammation markers and hemogram parameters as neutrophil-lymphocyte-ratio (NLR), platelets-lymphocyte-ratio (PLR) and mean-platelet-volume (MPV) in infants with febrile urinary tract infection until the urine cultures are resulted. Methods. Infants between 2-24 months hospitalized for the first febrile urinary tract infections were grouped as those infected with ESBL-PB and non-ESBL-PB. The demographic and laboratory data (inflammation markers and hemogram parameters) and the ultrasonographical findings were compared between the two groups. Results. A total of 232 patients were included in the study. The mean age was 8.82 ± 5.68 (2-23) months and 114 (49%) of them were female. Escherichia coli was the most common isolated bacteria (79%) followed by Klebsiella pneumoniae (15.5%) in urine cultures. There were 88 patients in ESBL-PB infected group and 144 patients in the non-ESBL-PB group. The hematologic parameters such as white blood cell count (WBC) count, NLR, PLR, MPV and procalcitonin (PCT) were similar between the two groups. Only the rate of ultrasonographic abnormalities was significantly higher in infants infected with ESBL-PB (p=0.012). The risk of ESBL-PB positivity in urine cultures increased with age (OR 1.068, 95% CI 1.002-1.139, p=0.045), PCT (OR 1.094, 95% CI 1.011-1.184, p=0.025), and ultrasonographic abnormalities (OR 3.981, 95% CI 1.792-8.845, p=0.001). Conclusions. Platelet counts, WBC, MPV, NLR, PLR, and PCT were not reliable markers, however having an ultrasonographic abnormality is the most important independent risk factor for prediction of infection with ESBL-PB. [ABSTRACT FROM AUTHOR]

Background. Herein we present our experience with abatacept in a patient diagnosed with primary focal segmental glomerulosclerosis (FSGS) and resistant to steroid and other immunosuppressives. Case. A 17-year-old girl was diagnosed with idiopathic nephrotic syndrome (NS) at the age of 8 years. Kidney biopsy was performed when she did not respond to 6-weeks of steroid (2mg/kg) therapy followed by three doses of pulse methylprednisolone (PMP) and considered as steroid resistant NS. The biopsy revealed focal segmental glomerulosclerosis (FSGS) and cyclophosphamide was added to the steroid treatment but the patient had no response. The genetic analysis revealed G34G/A318A compound homozygous synonym aminoacid variation in NPHS2 gene, thus all immunosuppressive regimes were stopped and she was put on supportive treatment. Throughout this period, she had nephrotic range of proteinuria, however serum albumin levels were >3g/dl. At the end of two years, the patient had NS with severe edema and hypoalbuminemia. When the genetic analysis was interpreted again, it was found to be consistent with a polymorphism rather than a mutation. Following 3 doses of PMP, oral steroid treatment was resumed and cyclosporine (CsA) was added to the treatment at the fifth year of follow up. However, she was unresponsive to CsA at the end of the first year as well as mycophenolate mofetil used for 12 months and rituximab used for 6 months, respectively. Then abatacept was instituted and proteinuria decreased below 1 gr/day and serum albumin levels increased to 3 g/dl at the end of 6 doses. Serum albumin levels remained stable in the following 7 months. Conclusion. Partial remission including the decrease in proteinuria and increase in albumin levels achieved in our patient encourages the usage of abatacept in patients who do not respond to multiple immunosuppressive therapies. [ABSTRACT FROM AUTHOR]

Background. Myalgia is one of the presenting symptoms of Familial Mediterranean Fever (FMF), which is reported at a rate of 27-39.6%. Recurrent fasciitis in those cases are extremely rare. We aimed to present a case with FMF having radiologically proven fasciitis. Case. An 11-year-old male patient with a diagnosis of FMF and M694V homozygote mutation, using colchicine regularly at a dose of 2 mg/day (0.08 mg/kg/day) for 4 years; was admitted to the hospital with severe pain and tenderness on the right calf. There were no accompanying symptoms like fever or abdominal pain. He described three similar episodes with pain and tenderness in left and right calves, which were not accompanied by fever in the last 6 months. The erythrocyte sedimentation rate and C-reactive protein levels were high and serum creatinine kinase was normal. The day after initiation of non-steroidal anti-inflammatory drug (NSAID), his complaints regressed. However, after a week, he again had a severe calf pain. Lower extremity arterial and venous doppler ultrasonography was normal. Increased peripheral signal intensity and fasciitis around the soleus muscle was defined in MRI. With NSAIDs, myalgia disappeared in a few days and acute phase reactants decreased within a week. In the follow up, canakinumab was prescribed due to febrile attacks as frequent as once a month and calf pain observed almost weekly. Thereafter, both febrile attacks and recurrent debilitating calf pain were completely ceased. Conclusion. There are three cases in the literature with fasciitis related myalgia. With this case, we wanted to emphasize fasciitis as a cause of FMF associated myalgia on MRI. In such cases MRI may be helpful to demonstrate fascial involvement. [ABSTRACT FROM AUTHOR]