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Background The accuracy of conventional urinalysis in diagnosing urinary tract infection (UTI) in children is limited, leading to unnecessary antibiotic exposure in a large fraction of patients. Urinary heat shock protein 70 (uHSP70) is a novel marker of acute urinary tract inflammation. We explored the added value of uHSP70 in discriminating UTI from other infections and conditions confused with UTI. Methods A total of 802 children from 37 pediatric centers in seven countries participated in the study. Patients diagnosed with UTI (n = 191), non-UTI infections (n = 178), contaminated urine samples (n = 50), asymptomatic bacteriuria (n = 26), and healthy controls (n = 75) were enrolled. Urine and serum levels of HSP70 were measured at presentation in all patients and after resolution of the infection in patients with confirmed UTI. Results Urinary (u)HSP70 was selectively elevated in children with UTI as compared to all other conditions (p < 0.0001). uHSP70 predicted UTI with 89% sensitivity and 82% specificity (AUC = 0.934). Among the 265 patients with suspected UTI, the uHSP70 > 48 ng/mL criterion identified the 172 children with subsequently confirmed UTI with 90% sensitivity and 82% specificity (AUC = 0.862), exceeding the individual diagnostic accuracy of leukocyturia, nitrite, and leukocyte esterase positivity. uHSP70 had completely normalized by the end of antibiotic therapy in the UTI patients. Serum HSP70 was not predictive. Conclusions Urine HSP70 is a novel non-invasive marker of UTI that improves the diagnostic accuracy of conventional urinalysis. We estimate that rapid urine HSP70 screening could spare empiric antibiotic administration in up to 80% of children with suspected UTI., Scientific Research Projects Coordination Unit of Istanbul University; European Society for Pediatric Nephrology (ESPN); Society for Children's Kidney Health; Istanbul Faculty of Medicine Foundation, UTILISE study was supported by Scientific Research Projects Coordination Unit of Istanbul University, by the European Society for Pediatric Nephrology (ESPN), by the Society for Children's Kidney Health, and by Istanbul Faculty of Medicine Foundation.

Patients with viral infection areat risk for secondary infections and/or co-infections. Ourstudy aims to describe coronavirus-disease-19 (COVID-19) associated with acute renal failure (ARF) secondary to fungalbezoar in urinary tract in two patients.A chart review of two patients with COVID-19 associated pneumonia admitted to an education and training hospital Istanbul, Turkey were evaluated.On the first day of hospitalization, ARF was developed in both of them. Ultrasonography and computedtomography scan revealed image of urolithiasis and hydronephrosis. However, in their cystoscopies, there were densedebris materials leading to obstruction in calyceal system. Antifungal medication was added to the COVID-19 treatment due to the macroscopic aspect during the cystoscopy. Renal functions of the children were improved following the treatment.Clinicians caring for patients with COVID-19 should perform a comprehensive analysis to detect co-infections.Los pacientes con infecciones virales están en riesgo de infecciones secundarias y co-infecciones. Nuestro estudio tiene como objetivos describir COVID-19 asociado a fallo renal agudo secundario a bezoarmicótico en el tracto urinario en dos pacientes.MÉTODOS: Se evaluó la historia clínica de dos pacientes con COVID-19 asociado a neumonía e ingresados en un hospital académico en Istambul, Turquía.En el primer día de hospitalización, el fallo renal agudo se desarrolló en ambos. La ecografía renal y tomografía computerizada mostraron imagen de urolitiasise hidronefrosis, aunque, en la cistoscopia había un material denso que obstruía el sistema caliceal. La medicación antifúngica se añadió al tratamiento de COVID-19 debido al aspecto macroscópico durante la cistoscopia. La función renal de los niños mejoró con el tratamiento.Los médicos que tratan pacientes con COVID-19 deberían hacer un análisis completo para detectar co-infecciones.

Various molecular and cellular processes are involved in renal fibrosis, such as oxidative stress, inflammation, endothelial cell injury, and apoptosis. Heat shock proteins (HSPs) are implicated in the progression of chronic kidney disease (CKD). Our aim was to evaluate changes in urine and serum HSP levels over time and their relationships with the clinical parameters of CKD in children. In total, 117 children with CKD and 56 healthy children were examined. The CKD group was followed up prospectively for 24 months. Serum and urine HSP27, HSP40, HSP47, HSP60, HSP70, HSP72, and HSP90 levels and serum anti-HSP60 and anti-HSP70 levels were measured by ELISA at baseline, 12 months, and 24 months. The urine levels of all HSPs and the serum levels of HSP40, HSP47, HSP60, HSP70, anti-HSP60, and anti-HSP70 were higher at baseline in the CKD group than in the control group. Over the months, serum HSP47 and HSP60 levels steadily decreased, whereas HSP90 and anti-HSP60 levels steadily increased. Urine HSP levels were elevated in children with CKD; however, with the exception of HSP90, they decreased over time. In conclusion, our study demonstrates that CKD progression is a complicated process that involves HSPs, but they do not predict CKD progression. The protective role of HSPs against CKD may weaken over time, and HSP90 may have a detrimental effect on the disease course. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s12192-021-01239-9.

Objective Nutcracker Syndrome (NCS) is the extrinsic compression of the left renal vein by neighboring arterial, ligamentous, muscular, or osseous structures. Diagnosis is made by Doppler ultrasonography (US), multidetector computerized tomography (MDCT), magnetic resonance imaging (MRI), phlebography. The aim of the current study is to assess the value of MRI and compare the efficiency of different sequences in diagnosis and follow up of children with NCS. Material and methods A total of 40 children (female/male ratio 3:1) with NCS were included in this prospective study. A standardized abdominal MRI protocol was used and T2-TRUFI (True Fast Imaging with Steady-State Free Precession), T2-HASTE (Half Fourier Acquisition with Single Shot Turbo Spin Echo), T1-VIBE (Volumetric Interpolated Breath Hold Examination), and out-of-phase (opposed-phase) T1 sequences were obtained. The sequences were compared according to anatomical depiction, measurability, and pulsation artifact. Results A four point-scale was used to assess subjective image quality and the results were listed as: 1 = poor, 2 = fair, 3 = good, and 4 = excellent. Both in total and for each individual criterion, the highest scores were obtained with T2-TRUFI (total mean 3.74 ± 0.45, anatomical depiction 3.9 ± 0.3, measurability 3.8 ± 0.4, aortic pulsation artifact 3.52 ± 0.55). Conclusion Although Doppler US is the gold standard technique in the diagnosis of NCS, MR imaging may be used as an additional modality, as it is superior to Doppler US in terms of anatomic depiction and a lower rate of imaging artifacts. Non-contrast MR imaging, particularly TRUFI sequence, may have an incremental value in the accurate diagnosis and follow-up of these patients.

Background/aim: this study aimed to evaluate the efficacy of rituximab in children with difficult-to-treat nephrotic syndrome, considering the type of disease (steroid-sensitive or -resistant) and the dosing regimen. Materials and methods: this multicenter retrospective study enrolled children with difficult-to-treat nephrotic syndrome on rituximab treatment from 13 centers. The patients were classified based on low (single dose of 375 mg/m(2)) or high (2-4 doses of 375 mg/m(2)) initial dose of rituximab and the steroid response. Clinical outcomes were compared. Results: data from 42 children [20 steroid-sensitive (frequent relapsing / steroid-dependent) and 22 steroid-resistant nephrotic syndrome, aged 1.9-17.3 years] were analyzed. Eleven patients with steroid-sensitive nephrotic syndrome (55%) had a relapse following initial rituximab therapy, with the mean time to first relapse of 8.4 +/- 5.2 months. Complete remission was achieved in 41% and 36% of steroid-resistant patients, with the median remission time of 3.65 months. At Year 2, eight patients in steroid-sensitive group (40%) and four in steroid-resistant group (18%) were drug-free. Total cumulative doses of rituximab were higher in steroid-resistant group (p = 001). Relapse rates and time to first relapse in steroid-sensitive group or remission rates in steroid-resistant group did not differ between the low and high initial dose groups. Conclusion: the current study reveals that rituximab therapy may provide a lower relapse rate and prolonged relapse-free survival in the steroid-sensitive group, increased remission rates in the steroid-resistant group, and a significant number of drug-free patients in both groups. The optimal regimen for initial treatment and maintenance needs to be determined., NA

Henoch-Schönlein Purpura (HSP) is the most common self-limiting vasculitis of childhood. Both serious gastrointestinal and renal complications may be observed during the disease course. The aim of this study was to evaluate the role of hematological markers in predicting the likely complications of the disease.The demographic findings, clinical features, organ involvements and laboratory findings including white blood cell count (WBC), neutrophil, lymphocyte and platelet counts, C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), neutrophil/lymphocyte ratio (NLR), platelet/lymphocyte ratio (PLR), mean platelet volumes (MPV), MPV/platelet count ratio (MPR) were evaluated retrospectively from the charts of the patients with HSP and all these parameters were compared with the same parameters of healthy children.A total of 376 patients with HSP and age- and sex-matched 233 healthy children were evaluated. Mean age at the diagnosis was 7.5 ± 3.5. All patients had palpable purpura, 46% had arthritis, 56.1% GIS involvement and 21.3% had renal involvement. While platelet counts, neutrophil counts, NLR, and PLR were higher, lymphocyte counts, MPV, and MPR were lower in patients with GIS involvement. NLR was the sole biomarker that was higher in patients with renal involvement.This study had shown that platelet counts, neutrophil counts, NLR, and PLR were increasing and lymphocyte counts, MPV, and MPR were decreasing when the patients had GIS involvement. However, these parameters were not relevant in distinguishing severe and mild GIS involvement. When patients had renal involvement NLR was the unique elevated parameter.

Henoch–Schonlein purpura (HSP) is the most common vasculitis of children. The aim of this study is to evaluate the demographic and clinic findings of patients with HSP and also to determine predictive factors for assessing the development of gastrointestinal system (GIS) and renal involvement. This study was performed prospectively among children with HSP who are under 18 years of age and being followed-up in the Pediatric Rheumatology Unit of Health Sciences University Kanuni Sultan Suleyman Training and Research Hospital between January 2016 and January 2018. A total of 265 patients, 137 boys (51.7%) and 128 girls (48.3%), were involved to the study. The mean ± standard deviation of age at the diagnosis was 7.5 ± 3.2. The most common disease onset season was spring (31.7%). The rate of arthritis, GIS involvement, and renal involvement were 54%, 51.3%, and 29.1%, respectively. GIS bleeding was more frequent in males than females (p = 0.007). Boys over 7 years of age had significantly more common GIS bleeding (p = 0.04). Intussusception, relapse, and serious GIS involvement requiring hospitalization and steroid treatment were highly associated with severe renal involvement. We demonstrated that patients suffering intussusception, relapse, and serious GIS involvement or requiring hospitalization and steroid treatment had tendency to present with severe renal involvement. Therefore, these patients should be followed up carefully for not overlooking renal involvement of HSP.

BACKGROUND Acute kidney injury (AKI) is a common condition in the neonatal intensive care unit (NICU), particularly in preterm infants. Management of AKI in neonates is challenging. Peritoneal dialysis (PD) has been preferred as the most applicable modality in neonates when medical therapy fails. CASE A female infant was born at 24 and 4/7 weeks with a birth weight of 460 grams after an emergency cesarian section from a preeclamptic pregnacy. She developed AKI secondary to sepsis. A neonatal, straight single-cuff Tenckhoff catheter was inserted and PD was started on day 12. PD was discontinued after 6 days, on day 18 with adequate urine output and normalization of kidney function tests. However, the patient died on day 152 secondary to a nosocomial infection. CONCLUSION To the best of our knowlegde, our case is the smallest infant in whom PD was performed succesfully with a PD catheter. PD is a relatively safe, effective and a feasible therapy in the neonatal population even in the smallest infants. PD may be a live-saving procedure in extremely low birth weight infants with severe AKI.

We aimed to evaluate anthropometric and bioimpedance analysis (BIA) indices of children with nutcracker syndrome (NCS). Eighteen patients and 20 age-gender matched controls were enrolled. Weight, height, body mass index (BMI), mid-arm circumference (MAC), waist circumference (WC), waist/hip ratio measurements, and BIA results were assessed. Laboratory parameters and Doppler sonographic findings were recorded. The weight, BMI, MAC, WC, body fat z scores, and waist/hip ratio were significantly lower in patients than in controls (p 0.05). Serum creatinine (Scr), albumin, HDL cholesterol, and urine protein (Up) were significantly increased in NCS patients compared to controls (p 0.05). On multivariate analysis, body fat z score was independently related to Up and the degree of superior mesenteric artery (SMA) angle (beta = -0.965, p = 0.018 and beta = 0.841, p = 0.04, respectively).NCS might be considered in slim proteinuric patients with unproven etiology. Serial anthropometric measurements and BIA analysis would estimate the severity of entrapment in LRV. Long-term follow-up of Scr might be required in NCS.• Nutcracker syndrome (NCS) is very rare and characterized by the compression of LRV between aorta and SMA. What is new: • Patients with NCS have a slimmer body feature with lower anthropometric and BIA indices. • Fat percentage indicates the degree of LRV entrapment and amount of proteinuria in NCS.

Schimke immuno-osseous dysplasia (SIOD) is a rare hereditary disease characterized by skeletal dysplasia, immune deficiency and progressive renal disease. Kidney involvement mainly determines the prognosis. The most common renal pathology is focal segmental glomerulosclerosis (FSGS). Medullary nephrocalcinosis refers to the diffuse deposition of calcium salts in renal medulla and has not previously been identified in SIOD. Here we report the first case of a pediatric patient having typical features of SIOD with medullary nephrocalcinosis.

Objective To assess the clinical features, additional abnormalities, and renal consequences of children with horseshoe kidney (HSK). Methods The medical records of 41 children with HSK followed in our pediatric nephrology clinic between the years of 2004 and 2014 were retrospectively reviewed. Results There were 22 girls (53.6%) and 19 boys (46.4%) aged 60 (2-192) months. The median follow-up time was 48 (12-120) months. HSK was incidentally found in 12 patients (29.3%), and 5 patients (12.2%) were prenatally diagnosed. Urinary tract abnormalities including vesicoureteral reflux (n = 8), ureteropelvic junction obstruction (n = 7), and duplex system (n = 3) were identified in 18 patients (43.9%). Eight children (19.5%) had bladder dysfunction, and 9 patients (21.9%) had additional systemic abnormalities. Urinary tract infection had been detected in 17 patients (41.4%). Seven patients (17%) required surgical intervention including pyeloplasty (n = 3), ureteroneocystostomy (n = 3), and upper pole heminephrectomy (n = 1). Renal scarring (RS) occurred in 10 patients (24.4%). Six patients (14.6%) developed proteinuria and 4 (9.8%) complicated with hypertension. Three patients (7.3%) progressed to chronic kidney disease (CKD). Multivariate logistic regression analysis showed that proteinuria, hypertension, and RS are independently associated with CKD. Conclusion Children with HSK might be examined for additional urologic and nonurologic abnormalities. Patients might be closely followed up for the increased risk of urinary tract infection and RS. Proteinuria, hypertension, and presence of RS seem to be the major determinants for progression to CKD in children with HSK.

Objective: To assess the morphological and clinical features of children with renal ectopia (RE) and assess whether the lateralization of ectopia determines the prognosis. Methods:The clinical, laboratory and radiological data of 61 patients diagnosed as RE in our center between the years of 2004 and 2014 were retrospectively reviewed. Results: There were 32 girls (52.5%) and 48 boys (47.5%). The median age was 48 (2-204) months and follow-up time was 60 (2-120) months. RE was right-sided in 33 (54%) and left-sided in 26 (46%) patients. 52 patients (85.2%) had simple RE whereas 9 (14.8%) had crossed RE. 27 children (44.3%) had additional urinary abnormality, 15 (24.6%) had extra-renal disease. The most common urinary tract malformation was vesicoureteral reflux (VUR) (21%). Renal scarring (RS) was detected in 17 patients (27.9%) on DMSA scan. 32 patients (52.5%) experienced urinary tract infection (UTI), 5 (8.2%) had hypertension, 11 (11%) had proteinuria, 5 (8%) had chronic renal disease (CKD). No significant difference was found between ectopia sides for evelopment of additional urinary or systemic disease, UTI, proteinuria, hypertension and CKD (p> 0.05). Conclusion: The children with RE should be carefully examined for additional urinary or systemic abnormalities. Voiding cystourethrogram might be recommended in those patients for the increased risk of VUR. The patients with RE should be closely followed-up for avoiding long term complications including proteinuria, hypertension and CKD because of susceptibility to UTI and RS. The lateralization of ectopia might not affect the incidence of additional abnormality or late complications.

PubMedID: 25019950 Background: We aimed to evaluate whether serum apelin could reflect the nutritional status of children on dialysis. Methods: Twelve patients on peritoneal dialysis (PD) and 20 patients on hemodialysis (HD) were enrolled. Patients received individualized diet for six months. Anthropometric and laboratory indices were measured at onset and the end of the study. Results: The anthropometric indices were all significantly lower in patients than in controls whereas similar in PD and HD patients. The protein catabolic rate (nPCR), height, mid-arm circumference (MAC), triceps skinfold thickness (TSF), arm muscle area (AMA) and arm fat area (AFA) z scores were significantly increased in dialysis patients after nutritional intervention. Weight z scores statistically increased in HD group whereas did not statistically change in PD group. Serum albumin levels were significantly improved in PD and HD patients. Apelin levels were similar in PD, HD and control groups. Post nutritional apelin values did not differ in each dialysis groups. On multivariate analysis, apelin was independently associated with age, weight, ESR and TG. Conclusions: Apelin seems to be not a useful indicator for monitoring the nutritional status in children on dialysis. However, the close link of apelin with inflammatory and lipid parameters suggested that apelin might be a novel target for slowing the atherogenic process in pediatric dialysis patients. © 2014 Informa Healthcare USA, Inc. All rights reserved. 2009BAP36 The study was funded by the unit of Scientific Research Project in Cukurova University: TF 2009BAP36. The authors thank to Ruksan Anarat and her staff for their strenuous efforts on biochemical analysis, and also to Safak Oznergiz, Gulcan Delidag and Hanifi Saban for allocation and preservation of the serum samples.

Congenital insensitivity to pain and anhidrosis (CIPA) is a rare form of hereditary sensory and autonomic neuropathy. It is characterized by impaired perception of pain and temperature, anhidrosis and intellectual disability. Self mutilating behaviors lead to accidental injuries. The limb lesions are often infected and frequently progress to chronic osteomyelitis. In pediatrics, amyloidosis usually occurs secondary to chronic inflammatory diseases. The coexistence of amyloidosis and CIPA has not previously been reported in literature. A CIPA case complicated with nephrotic syndrome and renal amyloidosis following chronic osteomyelitis is presented here. This report emphasizes the importance of close follow-up of patients by urine analysis for the risk of developing amyloidosis particularly in the presence of chronic infections.

Background: Drug-ethanol interaction can result in hepatotoxicity. The liver is capable of metabolizing both acetaminophen and ethanol, however, severe acute or moderate chronic simultaneous exposure can cause cell and tissue damage. Therapeutic doses can become harmful if gene activity is altered via competition for metabolic pathways. Simultaneous intake of ethanol and acetaminophen results in overactive CYP2E1 and depletion of glutathione, leaving NAPQI to build up in the liver. NAPQI is a hepatotoxic substance typically neutralized by glutathione. Methods: Bioinformatics tools including PharmGKB, Chemical Annotation Retrieval Toolkit, Transcriptome Analysis Console 4.0 (TAC), wikipathways, STRING, and Ingenuity Pathway Analysis (IPA) were used to explore interactive metabolic pathways of ethanol-acetaminophen exposure as a proof of concept for assessing drug-drug or drug-alcohol interactions. Results: As the ethanol-acetaminophen comparison indicates, bioinformatics tools may be used to understand interactive pathways following exposure to ethanol and acetaminophen, with potential extrapolation to other drug-drug/drug-ethanol interactions. Conclusions: Direct interactive effects were not able to be confirmed through this bioinformatics study due to the lack of existing ethanol-acetaminophen simultaneous exposure data. This work suggests that a battery of software applications should be used to assess interactive effects.

Few data on the renal effects of thalassemia syndrome are available in the literature. Recent clinical studies identified proximal tubular damage and glomerular filtration abnormalities in thalassemia. Iron-chelating agents might be nephrotoxic as well, but proven glomerular injury, either due to anemia or chelating therapy, has not previously been demonstrated in thalassemia patients. Here, we report the first thalassemia patient presenting with nephrotic syndrome to be diagnosed with membranous nephropathy in the literature.

A congenital prepubic sinus is a tract that originates in the skin and overlays the base of the penis; however, its embryologic basis is still debated. We herein present a case involving a 3-year-old boy who was admitted for examination of overlying tissue located a few centimeters distal to the dorsal base of the penis. Examination revealed a tiny sinus in the prepubic area, and 3 cm of tissue was attached to the sinus. Pathologic examination showed that the tissue was lined with squamous epithelium and continued along the sinus tract, which was lined with urothelial epithelium. According to Stephens' classification, the sinus appeared to be a variant of type 2 dorsal urethral duplication, and the remnant tissue mimicked the corpus spongiosum of the penis.

Henoch-Schonlein purpurasi (HSP) cesitli sistemleri tu­tan ve farkli klinik seyirler gosteren bir vaskulittir. Purpura tarzinda dokuntu, karin agrisi, artrit, bobrek tutulumu ile ortaya cikabilmektedir. Nadiren, deri, gastrointestinal sis­tem (GIS) ve bobrek tutulumu agir seyretmekte ve erken veya gec donemde cesitli komplikasyonlara yol acabil­mektedir. Bu yazida yuksek doz intravenoz steroid teda­visine yanit vermeyen tekrarlayan GIS kanamasi intrave­noz siklofosfamid ile basarili bir sekilde tedavi edilen agir GIS tutulumlu iki HSP\'li cocuk olgunun sunulmasi amac­landi. Hastalarimizdan birinde GIS tutulumuna ilaveten deri grefti gerektirecek kadar agir nekrotik cilt tutulumu, digerinde ise nefrotik proteinuri ile seyreden bobrek tu­tulumu mevcuttu. HSP\'li cocuklarda yuksek doz steroide yanit alinamayan agir GIS tutulumunda intravenoz siklo­fosfamid yararli olabilir.

The nutcracker syndrome refers to compression of left renal vein between the superior mesenteric artery and aorta. Renal abscess consists of purulent and necrotic material localised to the renal parenchyma. These two entities are extremely rare and their coincidence has not previously been described in literature. Here, we report a case of a 10-year-old girl who developed left renal abscess probably due to nutcracker syndrome.

WOS: 000390621900011, PubMed ID: 27717786, A thermostable metalloprotease, produced from an environmental strain of Candida kefyr 41 PSB, was purified 16 fold with a 60% yield by cold ethanol precipitation and affinity chromatography (bentoniteacrylamide-cysteine microcomposite). The purified enzyme appeared as a single protein band at 43 kDa. Its optimum pH and temperature points were found to be 7.0 and 105 degrees C, respectively. K-m and V-max values of the enzyme were determined to be 3.5 mg/mL and 4.4 mu mol mL(-1) min(-1), 1.65 mg/mL and 6.1 mu mol mL(-1) min(-1), using casein and gelatine as the substrates, respectively. The activity was inhibited by using ethylenediamine tetraacetic acid (EDTA), indicating that the enzyme was a metalloprotease. Stability of the enzyme was investigated by using thermodynamic and kinetic parameters. The thermal inactivation profile of the enzyme conformed to the first order kinetics. The half life of the enzyme at 95, 105, 115, 125 and 135 degrees C was 1310, 610, 220, 150, and 86 min, respectively. (C) 2016 Elsevier B.V. All rights reserved., Cumhuriyet University (CUBAP) [F-368], This work was supported by The Research Fund of Cumhuriyet University (CUBAP, Project no: F-368).

önenli-Mungan N, KörD, Karabay-Bayazıt A, Cengiz N, YavuzS, NoyanA, CeylanerG, Şeker-Yılmaz B, TopaloğluAK, YükselB, AnaratA. Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey. Turk J Pediatr 2016; 58: 362-370.We have conducted this study for the purposes of demonstrating the spectrum of mutations and of identifying their effects on the phenotype, with a particular focus on the clinical course, prognosis and response to treatment. A total of 25 patients from 20 families, who have been treated and followed up after being diagnosed with cystinosis. Nine patients were identified with mutations of homozygous c.451A>G, 7 patients with homozygous c.681G>A, 6 patients with homozygous c.834_842del, 2 patients with homozygous c.18_21delGACT and 1 patient with compound heterozygous for c.451A>G/ c.1015G>A. The c.834_842del mutation identified in six patients from four families has not been previously identified.Progression to renal failure occurred earlier in the patients identified with the new mutation, despite treatment. Larger patient series are required to demonstrate the genotypic properties of the patients with cystinosis and their relationship with the clinical course. önenli-Mungan N, KörD, Karabay-Bayazıt A, Cengiz N, YavuzS, NoyanA, CeylanerG, Şeker-Yılmaz B, TopaloğluAK, YükselB, AnaratA. Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey. Turk J Pediatr 2016; 58: 362-370.We have conducted this study for the purposes of demonstrating the spectrum of mutations and of identifying their effects on the phenotype, with a particular focus on the clinical course, prognosis and response to treatment. A total of 25 patients from 20 families, who have been treated and followed up after being diagnosed with cystinosis. Nine patients were identified with mutations of homozygous c.451A>G, 7 patients with homozygous c.681G>A, 6 patients with homozygous c.834_842del, 2 patients with homozygous c.18_21delGACT and 1 patient with compound heterozygous for c.451A>G/ c.1015G>A. The c.834_842del mutation identified in six patients from four families has not been previously identified.Progression to renal failure occurred earlier in the patients identified with the new mutation, despite treatment. Larger patient series are required to demonstrate the genotypic properties of the patients with cystinosis and their relationship with the clinical course.

Acquired partial lipodystrophy is an extremely rare condition of unknown etiology characterized by progressive loss of fat of the face, neck, trunk, and upper extremities. It usually begins during childhood and is more common in girls. C 3 hypocomplementemia is seen in 70% of patients with acquired partial lipodystrophy. Unlike generalized forms of the disease, no insulin resistance occurs. We present three boys with acquired partial lipodystrophy having C 3 hypocomplementemia. In addition, one of them had antiphospholipid and anticardiolipin antibodies.

Heiner syndrome is a food-induced pulmonary hypersensitivity disease that predominantly affects infants. Chronic respiratory symptoms with pulmonary infiltrates on radiography, positive milk precipitins and resolution of findings upon removal of cow's milk constitute the main features. Severe cases may present with pulmonary hemosiderosis. Few renal manifestations associated with this syndrome have been reported so far. Here we report the first case of Heiner syndrome complicated by crescentic glomerulonephritis after 5 years of follow-up.

Objective Acquired partial lipodystrophy (APL) is a rare disorder characterized by progressive selective fat loss. In previous studies, metabolic abnormalities were reported to be relatively rare in APL, whilst they were quite common in other types of lipodystrophy syndromes. Methods In this nationwide cohort study, we evaluated 21 Turkish patients with APL who were enrolled in a prospective follow-up protocol. Subjects were investigated for metabolic abnormalities. Fat distribution was assessed by whole body MRI. Hepatic steatosis was evaluated by ultrasound, MRI and MR spectroscopy. Patients with diabetes underwent a mix meal stimulated C-peptide/insulin test to investigate pancreatic beta cell functions. Leptin and adiponectin levels were measured. Results Fifteen individuals (71.4%) had at least one metabolic abnormality. Six patients (28.6%) had diabetes, 12 (57.1%) hypertrigylceridemia, 10 (47.6%) low HDL cholesterol, and 11 (52.4%) hepatic steatosis. Steatohepatitis was further confirmed in 2 patients with liver biopsy. Anti-GAD was negative in all APL patients with diabetes. APL patients with diabetes had lower leptin and adiponectin levels compared to patients with type 2 diabetes and healthy controls. However, contrary to what we observed in patients with congenital generalized lipodystrophy (CGL), we did not detect consistently very low leptin levels in APL patients. The mix meal test suggested that APL patients with diabetes had a significant amount of functional pancreatic beta cells, and their diabetes was apparently associated with insulin resistance. Conclusions Our results show that APL is associated with increased risk for developing metabolic abnormalities. We suggest that close long-term follow-up is required to identify and manage metabolic abnormalities in APL.

Aim: To evaluate the association between urinary tract infection (UTI) and urinary metabolites. Material and Method: Eighty children aged below 14 years old who were following for recurrent UTI were enrolled into the study. Urinary calcium (Uca), oxalate (Uox), citrate (Ucit) and cysteine (Ucis) levels were studied in 24 hours urine samples. Hypercalciuria, hyperoxaluria and hypocitraturia were identified according to the reference values. The positivity of sodium nitroprussid test was accepted as cystinuria. The results were compared between patients and control groups involving thirty children. The patients were divided into two subgroups according to the presence of renal scarring (RS) on radionuclide scan. The similar comparisons were made between the subgroups. Results: There was no significant difference between the ratios of hypercalciuria, hypocitraturia and cystinuria in patient and control groups (p> 0.05). Uox/Ucr levels were significantly increased in patients compared to controls (p= 0.001) whereas Uca/Ucr and Ucit/Ucr levels were similar among study groups (p= 0. 082 and p= 0.466). There was no significant difference between RS (-) and RS ( ) groups for hypercalciuria, hyperoxaluria, hypocitraturia and cystinuria (p> 0.05). Discussion: The increase in urinary excretion of oxalate might be a risk factor for UTI. There was no evidence regarding that urinary metabolic abnormalities such as hypercalciuria, hyperoxaluria, hypocitraturia and cystinuria have affected the development of RS in the setting of UTI.

Children commonly undergo vesicograms for diagnosing vesicoureteral reflux (VUR). This requires urethral catheterization with transurethral replacement. We report misdiagnosed or related complications due to indwelling urethral catheters unintentionally placed in the ureter. From our computerized urology records over an 18-year period from January 1995 to May 2013, we retrospectively identified nine cases of 1850 vesicograms that had misdirection of a urethral catheter placed in a ureter. Foley catheters with inflating balloons were used to obtain the vesicograms. In all, 1850 vesicograms were performed (746 males, 1104 females; age 1 week to 14 years, mean age 3.8 years) using standard radiological techniques. Size 6–10 Fr indwelling urethral catheters were used, depending on the patient’s age and gender. In nine cases (five females, four males), a misdirected urethral catheter was discovered in one of the ureters. The urethral catheter was in the left ureter in four patients and in the right ureter in five patients. Cystoscopic examination found ectopic ureteral openings in six patients: at the bladder neck in four and just below the bladder trigone in two. Three patients in this group with ectopic ureters were followed due a misdiagnosis of VUR. The remaining three patients had grade 3 or 4 VUR. In this group, the catheter passed into the ureter because of the enlarged ureterovesical junction. In one patient with VUR, intraparenchymal fluid leakage and transient hematuria occurred due to the rapid tension increase following the fast injection of contrast with liquid to one ureter. Although placing an indwelling urethral catheter is a relatively safe procedure, complications can occur, particularly in patients with ureterovesical anomalies, such as high-grade VUR or an ectopic ureter. Using catheters with inflating balloons can cause rapid increases in tension in the ureter, and related complications.

PubMedID: 15251335 Background Proinflamatory and profibrotic cytokines may be responsible for the cyclosporine A nephrotoxicity. Increased levels of apoptosis, free oxygen redicals, and transforming growth factor beta (TGF-ß), may play an important roles in the pathogenesis of nephrotoxicity. In this experimental animal study, we sought to investigate the effects of colchicine on the cyclosporine nephrotoxicity. Method Twenty-four Wistar albino rats were divided into three groups: cyclosporine 15 mg/kg subcutaneously (SC); cyclosporine 15 mg/kg SC plus colchicine 30 mcg/kg orally; and a control group; equal doses of olive oil orally were administered to groups 1, 2, and 3. Renal function, cyclosporine levels, and serum malonyldialdehyde (MDA) levels were measured at the end of 4 weeks. Apoptosis, TGF-ß, and other findings were detected in renal tissue with the TUNEL method, with a immunohistochemical method, and with routine staining procedures, respectively. Results There were significant differences in the values of mean creatinine clearance between group 1 and group 3 and between group 2 and group 3 (P < .05 for each comparison), but not between group 1 and group 2 (P > .05). MDA levels in group 1 were high compared with the control group (P < .05) with a trend toward elevation relative to group 2 but the results were not statistically significant (P > .05). Renal tubular vacuolization in group 1 and group 2 animal were greater than in the control group, but no significant difference were observed between any of the groups (P > .05). Mononuclear cell infiltration in group 1 and group 2 hosts were higher than the control group, but there was no significant differences between the groups (P > .05). Afferent arteriolar hyalinization was observed group 1 and 2 but not group 3. There was a statistically significant difference between group 1 and group 3 and between group 2 and group 3 (P < .05 for each comparison). The expression level of TGF-beta was higher in group 1 than group 2 or group 3 (P < .05 for each comparison) but group 2 and group 3 were similar (P > .05). Apoptotic cell death count of group 1 was higher than that in group 2 or group 3 (P < .05, for each comparison); moreover, group 2 also showed greater numbers of apoptotic cells than group 3 (P < .001). At the end of the 4 weeks, there was no intersititial fibrosis in any of the hosts. Conclusion While cyclosporine caused increased TGF-ß expression and apoptotic cell death in the renal tissue of rats colchicine prevented the increase in MDA serum levels, TGF-ß expression, and apoptosis in renal tissue. Our study suggests that colchicine may diminish the cyclosporine nephrotoxicity by its suppressing the expression of TGF-ß, apoptotic cell death, and MDA production.

Few data on the renal effects of thalassemia syndrome are available in the literature. Recent clinical studies identified proximal tubular damage and glomerular filtration abnormalities in thalassemia. Iron-chelating agents might be nephrotoxic as well, but proven glomerular injury, either due to anemia or chelating therapy, has not previously been demonstrated in thalassemia patients. Here, we report the first thalassemia patient presenting with nephrotic syndrome to be diagnosed with membranous nephropathy in the literature.

Schimke immuno-osseous dysplasia (SIOD) is a rare hereditary disease characterized by skeletal dysplasia, immune deficiency and progressive renal disease. Kidney involvement mainly determines the prognosis. The most common renal pathology is focal segmental glomerulosclerosis (FSGS). Medullary nephrocalcinosis refers to the diffuse deposition of calcium salts in renal medulla and has not previously been identified in SIOD. Here we report the first case of a pediatric patient having typical features of SIOD with medullary nephrocalcinosis.

The aim of the study was to assess mean platelet volume (MPV) in children with systemic lupus erythematosus (SLE) at the active and inactive stages. Twenty children with SLE and 30 age- and gender-matched controls were enrolled. Demographic data, SLE disease activity index (SLEDAI), erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), MPV, complement 3 (C3), complement 4 (C4), urine protein (Up), and urine creatinine (Ucr) values upon reactivation and remission phases were recorded. MPV was statistically higher in patients than in controls and significantly increased in active phase compared to inactive phase (p = 0.001). A MPV level of 8.4 fL was determined as predictive cutoff value of activation of SLE (sensitivity 75 %, specificity 90 %). MPV was positively correlated with SLEDAI (p = 0.01, r = 0.55), ESR (p = 0.01, r = 0.45), CRP (p = 0.04, r = 0.24), and Up/Ucr (p = 0.01, r = 0.45) and negatively correlated with C3 (p = 0.02, r = −0.36), albumin (p = 0.01, r = −0.63), and Hb (p = 0.01, r = −0.48). There was not any significant association between MPV and the histological classification of lupus nephritis (p = 0.65). MPV might be used as an early indicator of reactivation in children with SLE. MPV seemed to be more accurate than ESR, CRP, and C3 for monitoring the disease activity in SLE.

PubMedID: 24060429 Introduction Neutrophil gelatinase associated lipocalin (NGAL) is a novel predictor of acute kidney injury (AKI), which increases with inflammation. We aimed to assess whether serum NGAL (SNGAL) and urine NGAL (UNGAL) can predict AKI in burned children. Methods Patients were referred within the 12 h of burn to our center. Serum samples for SNGAL, C-reactive protein (CRP), procalcitonin (PCT) and urine for UNGAL, microalbumine (Umalb), creatinine (Ucr) were obtained at both admission and the 5th day after burn. Blood urea nitrogen (BUN) and serum creatinine (Scr) were examined daily. Results Twenty-two subjects were enrolled and six (27.2%) of them developed AKI within the 48 h of injury. Burn size and abbreviated burn severity index (ABSI) were significantly increased in patients with AKI. CRP, PCT, SNGAL and UNGAL levels at admission and day 5 were significantly higher in patients with AKI than in those without AKI and controls. Scr was not significant between AKI and non-AKI groups at hospital days 1 and 5. A SNGAL level of 315 ng/ml and a UNGAL level of 100 ng/ml were determined as predictive cut-off values of AKI at admission (sensitivity and specificity: 71.4%, 83.3% and 93.3%, 93.7%, respectively). SNGAL and UNGAL were positively correlated with CRP, PCT, ABSI and Umalb/Ucr. Conclusion SNGAL and UNGAL are good early predictors of AKI in children with severe burn. NGAL might reflect the severity of burn insult and also could be used as an indicator of inflammation in burn children. © 2013 Elsevier Ltd and ISBI. 2009BAP24 The study was funded by the unit of Scientific Research Project in Cukurova University: TF 2009BAP24.

PubMedID: 24128877 Objective: Early identification of reflux nephropathy (RN) could reduce the frequency of chronic kidney disease (CKD) caused by vesicoureteral reflux (VUR). We aimed to assess whether cystatin C has value for determining RN in children with VUR. Materials and methods: Ninety-three children with VUR were classified into two groups according to the presence of renal parenchymal scarring (RS). Patients with RS were divided into three subgroups according to scar grade. Serum cystatin C, serum creatinine (Scr) and urine creatinine were measured. eGFR values of the patients were calculated with Scr-based, cystatin C-based and combined formulas. Results: Cystatin C was significantly higher in patients with RS than patients without RS and declined in parallel with grade of RS (p = 0.01). Scr was not significant in patients with and without RS. It was only significant between mild and severe scar subgroups (p < 0.05). All eGFR values were lower in RS (+) patients compared with RS (-) patients. All eGFR equations were negatively correlated with grade of RS (p < 0.05). Conclusion: Cystatin C could be a useful marker for identifying the risk and severity of RN in patients with VUR. Renal functions could be more accurately determined with Scr-cystatin C combined eGFR equations. © 2013 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

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PubMedID: 10674915 Postmastectomy lymphedema (PML) is a morbid condition occurring in patients with breast carcinoma treated with radical/modified radical mastectomy. Postmastectomy angiosarcoma (PMA) is the most common neoplasia seen in these patients. Primary malignant lymphoma arising in PML is a rare neoplasia and 3 cases have been reported until now. In this report a patient with diffuse large cell lymphoma (DLCL) arising in PML is reported and the other three cases are reviewed.

PubMedID: 10721792 Cutaneous infiltrations in hemopoietic neoplasias are not uncommon. They are generally localized on the legs, arms, back, anterior chest, scalp and face. In rare cases specific infiltration of neoplastic cells is localized in the site of herpes tester and herpes simplex scars. In this report a case with T cell lymphoma in leukemic phase with skin infiltration in the previous Varicella Zoster Virus (VZV) site of infection is reported and literature is reviewed.

PubMedID: 24365089 Objective To assess the value of ambulatory blood pressure monitoring (ABPM) for identifying the risk of hypertension (HT) in children with vesicoureteral reflux (VUR). Methods Seventy-six children with primary VUR were enrolled. Patients were divided into 2 groups according to renal scarring (RS). Serum creatinine, urine protein, and urine creatinine were measured. All patients underwent ABPM and casual blood pressure (BP) examination. ABPM measurements were standardized to age, gender, and height by Lambda-Mu-Sigma method. Results Urine protein and creatinine concentrations were statistically higher in RS (+) group than RS (-) group (P =.05). Casual systolic and diastolic BP standard deviation score (SDS) values were not statistically different between RS (+) and RS (-) groups. Day, night and 24-hour systolic BP SDS, day and 24-hour mean arterial blood pressure SDS values were significantly higher in RS (+) group than that of RS (-) group (P =.015, P =.031, P =.013, P =.07, and P =.021, respectively). All ABPM values significantly increased in patients with severe RS compared with ones with mild and moderate RS (P .05). Conclusion ABPM is more sensitive than casual BP measurements and might be used for early identification of HT in VUR patients. The severity of RS increases the risk of HT in children with VUR. Controlling HT with proteinuria would decrease the progression of renal damage in VUR. © 2014 Elsevier Inc. All Rights Reserved.

PubMedID: 23957657 Background: Some patients with vesicoureteral reflux (VUR) develop reflux nephropathy (RN) and a number of them progress to chronic kidney disease (CKD). However, it is unclear to predict which patient will develop RN and/or CKD. The aim of this study is to evaluate the role of Interleukin-18 (IL-18), C-reactive protein (CRP) and procalcitonin (PCT) as an indicator of RN in VUR. Methods: Ninety-three children aged 3.5-16 years with primary VUR were enrolled. Patients were divided into two groups according to the presence of renal scarring (RS). CRP, PCT, blood urea nitrogen (BUN), serum creatinine (Scr), urinary protein (Up), creatinine (Ucr) and microalbumin (Umalb), serum and urine IL-18 levels were determined during urinary tract infection (UTI) free episode. Results: BUN, Scr, Up/Ucr and Umalb/Ucr concentrations were higher whereas calculated creatinine clearance (Ccr) values were lower in RS (+) group compared to RS (-) group. CRP, PCT, serum and urine IL-18 levels and mean urine IL-18/Cr concentrations were similar in both groups. Serum and urine IL-18 levels did not differ according to the grade of VUR. No significant correlation was found between CRP, PCT and IL-18. Conclusions: Proteinuria and microalbuminuria are valuable hallmarks of RN. CRP and PCT seem not to be reliable indicators of RN in VUR patients. Moreover, serum and urine IL-18 might not predict RN. © 2013 Informa Healthcare USA, Inc.

We conducted a multicenter pediatric study of ureteral stents unintentionally left in situ.A total of 22 patients with encrusted Double-J® ureteral stents unintentionally left in situ were treated at 4 centers between January 2007 and March 2012. Stone burdens were estimated using plain radiography and computerized tomography. Treatment decision was made based on clinical and radiological findings or stone burden.Nine girls and 13 boys with a mean age of 9.5 years (range 2 to 16) were analyzed. Mean indwelling time of ureteral stent was 21.7 months (range 6 to 60). Stents were inserted for the indication of urolithiasis (17 patients) and reconstructive urological intervention (5). In 2 patients stents had been placed bilaterally. Mean stent stone burden was 184 mm(2) on plain radiography and 247 mm(2) on computerized tomography, a difference that was statistically significant (p = 0.002). Shock wave lithotripsy was done in 6 cases. Endoscopic procedures were performed in all patients, including ureteroscopy in 8, simple stent removal in 7, endoscopic cystolithotripsy in 6, percutaneous nephrolithotomy in 5, retrograde intrarenal surgery in 3 and percutaneous cystolithotripsy in 2. Surgical removal of each stent required a mean of 1.5 interventions and a mean hospital stay of 4.4 days.At experienced centers combined endourological techniques can achieve successful and safe management of forgotten stents even in the pediatric age group. Thus, routine preprocedural tomography is a must in children with forgotten ureteral stents.

Takayasu arteritis is a potentially life threatening vasculitis that characterized by granulomatous inflammation of large vessels including aorta, its major branches and pulmonary arteries. True incidence of TA is not known in children, since TA is very rare; however, incidence of TA has been estimated as 0.8-2.6 per million children. Making a diagnosis is more difficult in childhood compared with adults due to non-specific clinical findings. The diagnosis of TA is done based on clinical criteria, laboratory investigations support and radiologic images confirm the diagnosis. Corticosteroids with other immunosuppressive drugs are used for treatment and biological agents are given to resistant cases. In this report, it was aimed to draw attention to a potentially fatal disease that frequently diagnostic delays and therapeutic difficulties occur. We, herein reported signs, symptoms, imaging methods and treatment modalities of two children, a 12 year-old male and a 13 year-old female patients, that presented with non-specific initial symptoms and diagnosed as TA with clinical findings and radiological images

WOS: 000306389200002, We report our experience in 41 patients with chronic phase (CF)-chronic myeloid leukemia (CML) who had discontinued imatinib switched to dasatinib, retrospectively. The CF-CML patients received dasatinib at starting dose of 100 once daily. Dose adjustment were observed in 11 patients, respectively. In case of other circumstances, treatment has been continued with a lower dose if needed. The median dose of dasatinib was 100 mg daily (range: 50 to 140 mg). We conclude that even low-dose dasatinib therapy is an effective and safe in second line treatment of CML patients patients.

Nutcracker syndrome (NCS) refers to the compression of the left renal vein (LRV) between aorta and superior mesenteric artery. It is very rare and usually manifests with hematuria, pain or proteinuria. Hypertension has been defined in two adult NCS cases. However ipsilateral renal scarring (RS) has not previously been demonstrated in any of NCS patients. Here we report a 14-year-old boy presented with hypertension and found to have NCS and left RS.

Acquired partial lipodystrophy is an extremely rare condition of unknown etiology characterized by progressive loss of fat of the face, neck, trunk, and upper extremities. It usually begins during childhood and is more common in girls. C(3) hypocomplementemia is seen in 70% of patients with acquired partial lipodystrophy. Unlike generalized forms of the disease, no insulin resistance occurs. We present three boys with acquired partial lipodystrophy having C(3) hypocomplementemia. In addition, one of them had antiphospholipid and anticardiolipin antibodies.