Cagla Serpil Dogan

Assessment of left ventricular function by tissue Doppler echocardiography in pediatric chronic kidney disease

Abstract Background: Cardiovascular (CV) disease remains the most common cause of mortality in chronic kidney disease (CKD). Methods: In this cross-sectional study, 43 pediatric patients with CKD were divided into two groups according to their estimated glomerular filtration rate (eGFR): groups 1 and 2 (eGR; 29–75 and 15–29 mL/min/1.73 m2, respectively). M – mode, conventional pulsed wave Doppler (cPWD) echocardiography and tissue Doppler imaging (TDI) were performed in all patients and 16 healthy controls. Maximal early (E wave) and late (A wave) diastolic flow velocities were assessed by cPWD. Using TDI, the early (E′) and late (A′) diastolic filling velocities were recorded. Early and late diastoles were evaluated using E′ values and E/E′ ratios, respectively. Results: Left ventricular hypertrophy (LVH) was determined in 19/43 (44.2%) patients. The E/E′ ratio was significantly higher in group 2 than in group 1 and controls. E/E′ was found to be positively correlated with left ventricular mass (LVM) index, and negatively with hemoglobin (Hb) levels. Low Hb levels were only independent predictor of E/E′ (p = 0.001, β: −0.470, 95% CI: −0.764; −0.196). E′ ratio was significantly lower in both patient groups compared to the controls. Conclusions: LVH and diastolic dysfunction are already present in early stages of CKD. Treatment of risk factors, such as anemia, is important to improve the clinical outcome.

Epstein-Barr virus infection in children with renal transplantation: 17 years experience at a single center

Abstract Objectives: The aim of this study was to detect the frequency, time of occurrence, management and outcome of Epstein–Barr virus (EBV) infection and related complications in pediatric renal transplant recipients. Methods: Pediatric renal allograft recipients transplanted between August 1994 and December 2011 at our hospital was evaluated retrospectively. The patients were divided into two groups; Groups 1 and 2 were composed of patients transplanted before and after November 2007, respectively, when plasma EBV DNA levels were periodically measured. Results: The study included 166 children, 89 (53.6%) boys, with a mean age of 12.2 ± 3.8 years. Prior to transplantation, 144 patients (86.7%) were EBV seropositive. Within a median follow-up period of 36 months, 11 of 22 seronegative children (50%) developed primary EBV infection. EBV reactivation was observed in 23 of 144 children (15.9%). Two patients with primary infection developed post-transplant lymphoproliferative disorder, one of whom died. Elevated serum creatinine levels or graft loss were not observed in any patient with EBV reactivation. Conclusions: EBV DNA monitoring by PCR in high-risk pediatric renal transplant recipients will provide early diagnosis and treatment of EBV infections.

Magnesium excretion and hypomagnesemia in pediatric renal transplant recipients

Abstract Background: We investigated magnesium excretion and rate of hypomagnesemia in pediatric renal transplant recipients. Method: The medical records of 114 pediatric renal transplant recipients were retrospectively evaluated. After exclusion of 23 patients, 91 patients were included in the study. We recorded serum magnesium levels at the time of measurement of urine magnesium wasting. Results: Mean serum magnesium levels were 1.73 ± 0.22 mg/dL and 38 of the patients (41%) had hypomagnesemia. There was a negative correlation between serum magnesium levels and estimated glomerular filtration rate and serum tacrolimus trough level (r = −0.215, p = 0.040 and r = −0.409, p = 0.000, respectively). Also, there was a statistically significant positive correlation between serum magnesium levels and transplantation duration (r = 0.249, p = 0.017). Mean fractional magnesium excretion was 5.9 ± 3.7% and 59 patients (65%) had high magnesium excretion. There was a significant negative correlation between fractional magnesium excretion and estimated glomerular filtration rate (r = −0.432, p = 0.001). There was a significant positive correlation between fractional magnesium excretion and serum creatinine (r = 0.379 p = 0.003). Conclusion: Patients with higher tacrolimus trough blood levels, lower glomerular filtration rate and at early posttransplant period had risk of hypomagnesemia.

A case report: hepatic posttransplant lymphoproliferative disorder in a non-liver transplant patient.

Posttransplant lymphoproliferative disorder (PTLD) is the most common malignancy in children after solid organ transplantation. We present a patient, who developed Epstein-Barr virus (EBV)-related PTLD in the liver after renal transplantation. A 10-year-old EBV-seronegative boy with cystinosis underwent a living related preemptive renal transplantation. He received antiviral prophylaxis with valacyclovir. At 5.5 months posttransplantation he displayed a primary EBV infection with an high fever, hepatosplenomegaly, monocytosis, and positive EBV DNA levels. Two months there after, a hypoechoic nodular 20-mm lesion in the left lobe of liver was detected on abdominal ultrasonography, performed because of anorexia and weight loss. EBV-DNA copy number was 7820 copies per milliliter. Liver biopsy showed a diffuse large B-cell lymphoma that was compatible with PTLD. We stopped all immunosupressive agents other than prednisolone. Chemotherapy consisting of two courses of cyclophosphamide, vincristine, prednisolone, and adriamycin was followed by rituximab. Within 2 months, the lesion resolved and within 18 months, he was free of disease.

Delayed diagnosis of primary vesicoureteral reflux in children with recurrent urinary tract infections: Diagnostic approach and renal outcomes

OBJECTIVE In this study, we aimed to assess renal outcomes of delayed diagnosis of dilating primary vesicoureteral reflux (VUR) following recurrent febrile urinary tract infections (fUTIs) and its diagnostic imaging procedures. MATERIAL AND METHODS The medical records of patients who underwent ultrasonography (US), non- acute dimercaptosuccinic acid (Tc-99mDMSA) scintigraphy and voiding cystourethrography (VCUG), and who were older than 2 years at the time of VUR diagnosis were retrospectively reviewed. RESULTS A total of 32 children (female, n=27: 84.4%) with a mean age of 7.67±3.34 years at the time of diagnosis of VUR were included in the study. Grade III, IV, V VUR were found in 22%, 69%, and 9% of the patients, respectively. At the time of VUR diagnosis, abnormal US findings were detected in 75% of the cases. Tc-99mDMSA detected abnormalities in 83.9% (7 with a single scar, 7 with multiple lesions, 12 with reduced kidney function) of the patients. Estimated glomerular filtration rate of 3 patients with bilateral grade IV VUR was <75 mL/min/1.73 m2. In 5 patients (16%), VUR could not be predicted by US+DMSA scintigraphy (Grade IV VUR in 3 and Grade III in 2 cases ). The sensitivity in predicting VUR was 75.00% (95% CI: 56.60-88.54) and 83.87% (95% CI: 66.27-94.55), respectively, for US alone and combined US+DMSA. CONCLUSION VCUG should be performed routinely in addition to US and non-acute DMSA in all children referred with recurrent fUTIs. Awareness of childhood UTI in public and healthcare personnels should be increased in order to refer these patients at a early stage to pediatric urology and nephrology units.

FRI0535 Clinical Evaluation of R202Q Alteration of MEFV Genes in Turkish Children: is R202Q A Benign Polymorphism or A Disease-Causing Mutation?

Background Familial Mediterranean Fever (FMF) is an inherited autosomal recessive disorder, caused by mutations in MEditerraneanFeVer gene (MEFV). To date over 200 alterations have been reported in MEFV genes. But, it is not clear whether all these alterations are disease-causing mutations. Objectives To evaluate the clinical and laboratory features of the children with R202Q alteration. Methods In our institution, molecular diagnosis of FMF was based on the automated DNA sequencing of the mutations in exon 2 and exon 10 of MEFV gene. Before December 2012, R202Q (605G>A) mutations were not reported to the clinicians, because it was not considered as a disease causing mutation. As recently some authors suggest that R202Q may be a disease causing mutation for FMF, MEFV mutation analysis that was performed between February 2009 and December 2012 were re-evaluted for R202Q alterations. Patients with heterozygous R202Q, homozygous R202Q and compound heterozygous and complex cases were included in the study. Their medical records were screened retrospectively. Results A total of 225 children, 113 males, were included. The patients were classified according to the MEFV mutation types: heterozygous R202Q in 55, homozygous R202Q in 30 and compound heterozygous and complex cases in 140. Also, patients were re-classified according to FMF phenotypes as phenotype 1 in 113 (50.2%), phenotype 3 in 7 (3.1%) and “FMF-like” disease in 105 (46.6%). None of the patients were diagnosed as FMF phenotype 2. In FMF groups (phenotype 1), a total of 113 patients had R202Q alteration: 2 heterozygous and 7 homozygous R202Q, 46 homozygous R202Q and M694V, and 58 compound heterozygous. The main clinical characteristics of the patients were: abdominal pain in 71.5%, fever in 37.7%, arthralgia/myalgia in 30.2%, arthritis in 10.2%, chest pain in 14.6%, erysipelas-like erythema in 13.3%, headache in 6.2% and history of appendectomy in 6.2%. The frequency of abdominal pain was significantly lower in patients with homozygous R202Q alteration (p=0.021), whereas patients with heterozygous R202Q mutations, though not statistically significant, had a higher frequency of arthralgia/myalgia (40.0%). Conclusions R202Q alteration of MEFV gene leads to symptoms consistent with FMF in some cases. This alteration may be associated with a mild phenotype and show phenotypic differences other than the common MEFV mutations. Disclosure of Interest None declared DOI 10.1136/annrheumdis-2014-eular.5247

Circulating endothelial cells in pediatric renal transplant recipients

BackgroundAn increase in the number of circulating endothelial cells (CEC) indicates endothelial damage and the risk of cardiovascular disease. The aim of our study was to investigate the association of CEC with various clinical parameters in pediatric renal transplant recipients.MethodsCEC, defined as CD45−CD146+, were enumerated by flow cytometry from the peripheral blood of 50 pediatric renal transplant recipients and 20 healthy controls. Clinical parameters, including renal function tests, fasting blood glucose, serum cholesterol and triglyceride, cyclosporine A (CsA) (trough and 2nd-hour) and tacrolimus (tac) trough blood levels and their association with CEC numbers were analyzed.ResultsCEC numbers of patients were higher than those of controls (respectively, 128 ± 89 cells/ml (42–468 cells/ml), 82 ± 33 cells/ml (32–137 cells/ml), p = 0.024). There was a statistically significant negative correlation between CEC numbers and glomerular filtration rate (GFR) (r = −0.300, p = 0.012). There was also a statistically positive association between CEC numbers and transplant duration as well as cyclosporine trough level (respectively, r = 0.397, p = 0.004, r = 0.714, p = 0.004). CEC numbers in patients on tac and CsA were similar (p = 0.716).ConclusionsOur results demonstrate that renal transplant recipients with high CsA trough blood level, longer transplant duration, and lower GFR, are at greater risk of developing endothelial damage.

Effect of renal graft on longitudinal growth in prepubertal children.

OBJECTIVES Linear growth impairment frequently accompanies chronic kidney disease in children. Despite successful renal transplant, growth retardation may persist in renal allograft recipients. MATERIALS AND METHODS We recorded the longitudinal growth and biochemical data of prepubertal children during the first 2 years after renal transplant in 34 children (18 boys [52.9%]; mean age at renal transplant, 7.3 ± 2.5 y; range, 1.4 to 9.8 y). Height standard deviation scores were calculated. The patients were divided into 2 groups according to the increase in height standard deviation scores over the first 2 years after renal transplant: group 1 (increases in height standard deviation scores < 1) and group 2 (increases in height standard deviation scores > 1). RESULTS Increases in height standard deviation scores were 0.12 ± 0.34 and 1.62 ± 0.52 for group 1 and group 2 (P < .001). The number of acute rejection episodes was significantly different between groups (P = .04). At renal transplant, increases in height standard deviation scores were negatively correlated with mean age (r: -0.354; P = .04) and height standard deviation scores (r: -0.353; P = .04). In the multivariate model, mean age and height standard deviation scores at renal transplant remained significantly associated with increases in height standard deviation scores (P = .018; β coefficient: -0.341, 95% CI: -0.17; -0.002; and P = .005; β coefficient: -0.431, 95% CI: -0.519; -0.101). CONCLUSIONS Renal transplant improves linear growth by providing moderate or accelerated growth in prepubertal children.

FRI0339 Prevelance of MEFV gene mutations in chidren with juvenil idiopathic arthritis

Background Mutations of the MEFV gene, which encodes pyrin protein, a negative regulator of inflammation, leads to Familial Mediterranean Fever (FMF). Recent studies with adults suggest that MEFV gene mutations may have a risk factor for other rheumatic diseases. Objectives In this study, we aimed to study the frequency of MEFV gene mutations in children with Juvenile Idiopathic Arthritis (JIA). Methods Children with JIA who had no typical symptoms of familial Mediterranean fever (FMF) were screened for the mutations in exon 2 and exon 10 of the MEFV gene. Each sample was screened for the mutations located in exon 2 and exon 10 of the MEFV gene by direct sequencing. Results A total of 52 children, 29 girls (55.8%), with a mean age of 9.6±4.4 years (2-16.6 years) were included. Patients were classified according to JIA subgroups as oligoarthritisin 26 (50%), polyarthritisin 13 (24.8%), systemic arthritis in11 (21.2%) patients and arthritis related with enthesitis and with inflammatory bowel disease one each. Eleven patients (21.2%) were heterozygous, two (3.8%) were homozygous and another two were compound heterozygous for MEFV gene. The allele frequency of MEFV mutations was found to be 18.2%, which is higher than the general population. No significant difference was found between the subgroups of JIA. Conclusions These finding suggest that mutations of the MEFV gene may present with varied distinct clinical presentations other than FMF. The MEFV gene may be responsible for diseases other than FMF. Disclosure of Interest None Declared