Songül Yılmaz

Anti-IL-1 treatment in familial Mediterranean fever and related amyloidosis.

Colchicine is the standard treatment in familial Mediterranean fever (FMF) patients. New treatment strategies are needed in FMF patients who were unresponsive to colchicine therapy or who had developed amyloidosis. The aim of this study was to present clinical-laboratory features and treatment responses of pediatric FMF patients that were treated with anti-IL-1 therapies. Files of patients who had been followed in our department with diagnosis of FMF were retrospectively evaluated. Patients that have been receiving anti-IL-1 therapies (anakinra or canakinumab) were included to the study. All patients were interpreted with respect to the demographic data, clinical and laboratory features of the disease, genetic analysis of MEFV mutations and treatment responses. Among 330 currently registered FMF patients, 13 patients were included to the study. Seven of them received anti-IL-1 therapy due to colchicine resistance and 6 due to FMF-related amyloidosis (1 of them with nephrotic syndrome, 2 with chronic kidney disease, 3 with renal transplantation). In all treated patients, attacks completely disappeared or decreased in frequency; partial remission occured in nephrotic syndrome patient; and their life quality improved. Anti-IL-1 therapies can be successfully used in colchicine-resistant FMF patients and patients with amyloidosis during childhood and adolescent period without major side effects.

Quality of life measures in Islamic rectal carcinoma patients receiving counselling

Aim  This prospective study was conducted to compare changes in the health‐related quality of life (HRQoL) and religious practices of patients who underwent surgery for rectal cancer.

Vesicoureteral Reflux and Renal Scarring Risk in Children after the First Febrile Urinary Tract Infection

Background/Aims: There are many controversies regarding the best approach for evaluating children after their first febrile urinary tract infection (UTI). The aim of this study was to define the clinical, laboratory, and radiological features of patients with their first febrile UTI and to investigate the factors that might predict the presence of vesicoureteral reflux (VUR) and renal scarring. Methods: The files of patients who were followed due to their first febrile UTI between 2008 and 2013 were retrospectively reviewed (n = 300). Patients were divided into groups based on their age, the resistance state of microorganisms, the presence of VUR, and scarring on Tc99m dimercaptosuccinic acid scintigraphy. The chi-square test and Mann-Whitney U test were used for analysis. Results: The median age at the first febrile UTI was 11 months and girls constituted 77% of the patient population. VUR and renal scarring were detected in 30.9 and 19.4% of the patients, respectively. C-reactive protein levels and the presence of renal scarring were significantly higher in patients with VUR (p < 0.05). Abnormal ultrasonography findings, VUR and recurrent UTIs were significantly higher in patients with renal scars (p < 0.001). In multivariate analysis, we did not detect any factor that might predict the presence of VUR and renal scarring. Conclusion: A majority of children had their first febrile UTI at a young age. Although we could not find any factor that might predict the VUR and scar risk in patients with their first febrile UTI, an abnormal renal scan at 6 months after infection was closely related with the presence of VUR and recurrent UTIs.

Hypertension and improved left ventricular mass index in children after renal transplantation

This study was conducted to evaluate the changes in BP and LVH after the transplantation and to evaluate the effect of BP changes in LVH. Forty‐three pediatric renal transplant patients, with a mean age of 16.99 ± 3.88 years, were enrolled in this study. Twenty‐three (53.5%) of the patients were male. Medical records for pretransplantation period (closest to the time of transplantation) and for post‐transplantation period (9‐12 months after transplantation) were reviewed. All the patients had BP measurements and echocardiographic evaluation in pre‐ and post‐transplantation period. Hypertension was defined as an average systolic and/or diastolic BP that is ≥95th percentile for sex, age, and height. Although the number of patients with hypertension increased from 30 (69.76%) to 35 (81.4%), the number of patients with LVH decreased from 19 (44.1%) to 9 (20.9%) after the transplantation. Although the only significant difference in BP measurements was between the mean Z scores of 24 hour and nighttime mean DBP before and after the transplantation; the mean LVMI, and the prevalence of LVH was significantly lower after the transplantation. There was no significant correlation between the LVMI and the BP measurements. Even though hypertension may persist, there is significant improvement in LVH after renal transplantation.

Two children with steroid-responsive nephrotic syndrome complicated by cerebral venous sinus thrombosis

ephrotic syndrome (NS) is a common disorder of childhood. he risk of thromboembolic (TE) phenomena in children with S is estimated as 1.8–5% with a higher incidence in steroid esistant forms.1,2 Venous thrombosis is the most frequent type of thrombois in childhood NS and occurs mainly in the deep venous ystem.3 Kerlin et al.4 reported 39 TE events among 326 S patients and 29 of them were deep venous thromboses ajority of which were seen in lower extremities. Although nfrequent other sites like the cerebral venous system may lso be affected and this presentation carries increased moridity and mortality. Herein we present two children with inimal change disease (MCD) who experienced thrombosis f the cerebral sinovenous system.

Primary Hyperoxaluria Type 1: A Cause for Infantile Renal Failure and Massive Nephrocalcinosis

Primary hyperoxaluria type 1 is a rare autosomal-recessive disease caused by the deficient activity of the liver specific enzyme alanine-glyoxylate aminotransferase. Increased endogenous oxalate production induces severe hyperoxaluria, recurrent urolithiasis, progressive nephrocalcinosis and renal failure. Here we report a 6 month old boy who presented with vomiting and decreased urine volume. He was diagnosed with chronic kidney failure at 4 months of age and peritoneal dialysis was introduced at a local hospital. His parents were third degree cousins and family history revealed 2 maternal cousins who developed end stage renal disease during childhood. When he was admitted to our hospital, laboratory studies were consistent with end stage renal disease, ultrasound showed bilateral massive nephrocalcinosis. As clinical presentation was suggestive for primary hyperoxaluria type 1, plasma oxalate was determined and found extremely elevated. Genetic testing proved diagnosis by showing a disease causing homozygous mutation (AGXT-gene: c.971_972delT). The patient was put on pyridoxine treatment and aggressive dialysis programme. In conclusion; progressive renal failure in infancy with massive nephrocalcinosis, especially if accompanied by consanguinity and family history, should always raise the suspicion of PH type 1. Increased awareness of the disease would help physicians in both treating the patients and guiding the families who have diseased children and plan to have further pregnancies.

De novo amyloidosis in a renal transplant patient.

Systemic AA amyloidosis is a serious complication of many chronic inflammatory disorders and chronic infections. Renal involvement is seen in the majority of the patients and can lead to end‐stage renal disease. Renal transplantation can be performed in these patients; however, amyloidosis can recur in the transplanted kidneys. On the other hand, de novo AA amyloidosis in renal transplant patients has been rarely reported. We report a 17‐yr‐old patient with end‐stage renal disease due to genitourinary anomalies who developed recurrent pyelonephritis after transplantation. Three yr after transplantation, renal biopsy was performed for proteinuria and AA amyloidosis was identified in the renal allograft. Although rare, chronic infections might cause de novo amyloidosis in renal transplant patients. Therefore, amyloidosis should be kept in mind in those types of patients who present with proteinuria.

Proteinuria in pediatric renal transplant recipients

Proteinuria has been shown to be an important and potentially treatable risk factor for graft loss. The aim of this study was to evaluate prevalence, etiology, and outcome of proteinuria during the follow‐up of children with renal transplantation. We retrospectively reviewed the files of renal transplanted children between 2006 and 2016 in our center. All patients were interpreted with respect to the demographic data and clinical and laboratory features including information about proteinuria. Chi‐square test and Mann‐Whitney U test were used for analysis. Fifty‐two children were eligible for the study. Proteinuria was observed in 34 (65%) and nephrotic range proteinuria was detected in 5 (9.6%) patients. Etiology of proteinuria could be identified in 21 patients. Acute rejection and uncontrolled hypertension were the most frequent causes of proteinuria. Proteinuria had resolved during the follow‐up in 59% of the patients. We found that children with and without proteinuria had similar glomerular filtration rate at the end of 50 months of follow‐up period. Proteinuria seems to be a common complication in renal transplant recipients. Graft functions can be preserved by immediate evaluation of increasing proteinuria, and by fixing treatable causes rapidly and efficiently during the follow‐up in majority of the patients.

Atypical Hemolytic Uremic Syndrome in Children Aged <2 Years

Background: There are limited data on infants with atypical hemolytic uremic syndrome (aHUS). The aim of this study was to determine the clinical and laboratory features, and to evaluate treatment modalities and outcomes in infants with aHUS. Materials and Methods: Relevant data on patients with onset of aHUS at age <2 years were obtained from the Turkish Pediatric aHUS Registry. Results: Among the 146 patients included in the Registry, 53 (36%) (23 male and 30 female) were enrolled for the study. Age at disease onset was ≤1 year in 29 of the patients. In all, 21 (40%) of the patients developed neurological symptoms. Disease-causing mutations were noted in 14 (36%) of the 39 patients in which genetic analysis was performed. Plasma therapy was performed in 42 (79%) patients; eculizumab therapy was administered to treat the first episode of aHUS in 33 (62%) patients and in 5 patients as the first- line therapy. In total, 38 (72%) patients received renal replacement therapy (RRT), 3 (6%) died due to acute illness, and 4 (8%) were discharged from hospital with RRT. Follow-up visit data were available for 46 patients and the median duration was 23 months (range 3–129 months). End-stage renal disease developed only in 1 patient. Proteinuria and hypertension persisted in 17 (37%) and 20 patients (44%) respectively. Eculizumab treatment was continued in 25 of the 39 patients during the follow-up period. Conclusion: One-third of the aHUS patients had disease onset during infancy. The prognosis of this life-threatening disease seems to get better with improved treatment modalities.

Proteinuria in a Crohn’s disease patient: Answers

1. In our case proteinuria could have been attributable either to the side effects of drugs or to secondary amyloidosis due to ongoing inflammation caused by Crohn’s Disease (CD). The patient had been treated with mesalazine for 3 years. The most common nephrotoxic effects of this drug are tubulointerstitial nephritis and glomerulonephritis [1], although Barbour et al. reported proteinuria in a patient with nephrotic syndrome [2]. In many cases, it is still difficult to determine whether renal findings are extraintestinal manifestations of the primary disease or adverse drug effects. The disease course of CD in our patient was mild and controllable with mesalazine monotherapy, with her attacks decreasing in frequency and severity and her growth parameters improving with this treatment. Secondary amyloidosis in childhood CD has very rarely been reported because amyloid deposition in CD requires decades. However, there was also a small possibility that a concomitant disease, such as Familial Mediterranean Fever (FMF), in which amyloidosis is not correlated with disease severity, might have caused the proteinuria in our patient. 2. A renal biopsy was performed for further evaluation of proteinuria, and 41 glomeruli, three of which showed segmental acellular nodulations, were observed. Immunoflorescence showed weak and scarce immunoglobulin G and C3 staining of glomeruli. Gentian Violet staining for amyloid showed deposition on those segmental glomerular nodulations and on some arteriolar walls. The tubulointerstitium was normal. Histopathologic diagnosis was reported as renal amyloidosis, and immunohistochemical subtyping for amyloid fibril protein revealed strong positivity with anti-amyloid A antibody, suggesting reactive systemic amyloidosis. Genetic testing for FMF showed that our patient was compound heterozygous for the M694V/V726 mutation. She was diagnosed with FMF-related amyloidosis and put on treatment regimen of colchicine (2 mg/day) and anakinra (1 mg/kg/day).