PubMed İndeksli Yayınlar Koleksiyonu
Permanent URI for this collectionhttps://hdl.handle.net/11727/4810
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Item Can RDW be used as a screening test for subclinical inflammation in children with FMF? Is RDW related to MEFV gene mutations?(2023) Parmaksiz, Gonul; Noyan, Z. Aytul; 36103024Objective Subclinical inflammation, an insidious feature of familial Mediterranean fever (FMF), can lead to life-threatening amyloidosis. We aimed to investigate acute phase reactants and complete blood count parameters to identify a useful marker for subclinical inflammation in children with FMF. A secondary aim was to identify an association between subclinical inflammation and specific Mediterranean fever (MEFV) gene mutations. Methods This study included 420 pediatric patients with FMF. Laboratory parameters of patients during the attack-free period and MEFV gene mutation analyses were recorded. Results Of the 420 patients, 88 (21%) had subclinical inflammation. Of those with subclinical inflammation, 48 (55%) had mutations in exon 10, 36 (41%) had M694V mutation, and 10 (11%) had M694V homozygous mutation. Red cell distribution width (RDW) value was higher in exon 10, M694V, and M694V homozygous mutations compared to other mutations. RDW was positively correlated with serum amyloid A (SAA) (r = 0.390, p = 0.0001). Analysis of a receiver-operating characteristic curve of RDW revealed that its optimal cut-off value for subclinical inflammation was 12.69%, its sensitivity was 64.10%, and its specificity was 50.90%. The area under the curve was 0.616 (p = 0.004, 95% confidence interval = 0.538-0.695). Conclusion We suggest that RDW can be used as a screening test as a marker of subclinical inflammation. A high RDW value should alert the clinician about subclinical inflammation in FMF children's patients with M694V (heterozygous, homozygous, compound heterozygous) mutation.Item Could Plasma Based Therapies Still Be Considered in Selected Cases with Atypical Hemolytic Uremic Syndrome?(2021) Ozlu, Sare Gulfem; Gulhan, Bora; Aydog, Ozlem; Atayar, Emine; Delibas, Ali; Parmaksiz, Gonul; Ozdogan, Elif Bahat; Comak, Elif; Tasdemir, Mehmet; Acar, Banu; Ozcakar, Zeynep Birsin; Topaloglu, Rezan; Soylemezoglu, Oguz; Ozaltin, Fatih; 35023648Background. Atypical hemolytic uremic syndrome (aHUS) occurs due to defective regulation of the alternative complement pathway (ACP) on vascular endothelial cells. Plasma based therapy (PT) was the mainstay of the treatment for aHUS for many years until the introduction of therapies targeting blockage of the complement system. The aim of this study was to evaluate patients with aHUS who had been treated with plasma based therapies alone. Methods. The outcomes of seven genetically confirmed aHUS patients (2 girls, 5 males) were evaluated by means of clinical presentation, response to plasma therapy, course of the disease during the follow-up period and last status. Results. The median age of the patients at admission was 6.7 years (IQR 0.7-7.8). Three patients received plasma exchange therapy and the other four patients were treated with plasma infusions. One patient was lost to follow-up after one year; the median duration of follow-up for other patients was 3.7 years (IQR 2.7-6.5). During the follow up, two patients from our historical records when complement blocking therapies had not been in clinical use yet in Turkey, underwent kidney transplantation. One transplant patient experienced an acute rejection episode without graft loss. The remaining five patients had a glomerular filtration rate of more than 90 ml/min./1.73 m(2) at the last visit. Conclusion. Although we had a relatively small patient population, our findings indicate that PT might still be considered in selected patients particularly in countries where complement blocking therapies are difficult to reach due to their unavailability or costs that are not covered by the health care systems.Item The relationship between body mass index and renal length in obese children(2020) Parmaksiz, Gonul; Kekec, Senay Demir; Cengiz, Nurcan Dinler; Noyan, Aytul; 0000-0003-2373-1837; 31997076; AAD-5713-2021; AAM-2935-2021Background Obesity in the pediatric population is a severe public health problem and is associated with various comorbidities. Renal length is an important clinical parameter for the diagnosis and follow-up of renal diseases. The aim of this study was to determine the relationship between renal length (measured ultrasonographically) and body mass index (BMI) in obese children, and to develop nomograms for renal length according to BMI. Methods Renal ultrasound was performed in 368 children without renal disease. Each child's age, gender, weight, height, and BMI (kg/m(2)) were recorded. The children were divided into three groups according to BMI percentiles: obese group: BMI >= 95th percentile; overweight group: BMI 85th-94th percentile; normal weight group: BMI 5th-84th percentile. Results Weight, height, BMI, and right and left renal length differed significantly between the three groups (p = 0.001). There were significant correlations between renal length with age, weight, height, and BMI. Measurement of renal length was independently associated with BMI, age, and height. BMI was used to create renal length nomograms for obese children, based on multiple regression analysis (R-2 = 0.32 and p = 0.0001). Mean renal length was highest in the obese group (96.9 +/- 13.4 mm) and lowest in the normal weight group (88.3 +/- 12.9 mm). Conclusions Ultrasonographic measurement of the renal length according to BMI in children can be a useful method in evaluating these children. Smaller-than-normal kidneys can easily remain undiagnosed in obese and overweight children and this nomogram offers an additional method to evaluate the renal size in obese children.Item Transplantation in pediatric aHUS within the era of eculizumab therapy(2020) Ozcakar, Zeynep Birsin; Ozaltin, Fatih; Gulhan, Bora; Comak, Elif; Parmaksiz, Gonul; Baskin, Esra; Topaloglu, Rezan; Kasap Demir, Belde; Canpolat, Nur; Yuruk Yildirim, Zeynep; Demircioglu Kilic, Beltinge; Yuksel, Selcuk; Soylemezoglu, Oguz; 0000-0003-4361-8508; 33217100; B-5785-2018aHUS is caused by the over-activation and dysregulation of the alternative complement pathway. Data regarding outcomes of pediatric aHUS patients after kidney transplantation are still very scarce. Accordingly, the aim of this study was to describe the clinical findings and outcomes of pediatric aHUS patients after renal transplantation. This is a retrospective, multicenter study including 12 patients from the national registry system. Among the 12 patients, eight had received prophylactic eculizumab and none of those patients (except one) had experienced aHUS recurrence during a median follow-up period of 58.5 (min-max, 4-94) months. Although eculizumab had been started on the day before transplantation in one of them, aHUS recurrence occurred during the transplantation procedure. Eculizumab had been stopped in only one patient who had no complement gene mutation after 35 months of therapy, and recurrence had not been observed during the 19 months of follow-up. In three patients, maintenance doses had been spaced out without any recurrence. One additional patient with anti-CFH antibody received only two doses of eculizumab for transplantation and had been followed for 46 months without aHUS recurrence. The remaining three patients had not received anti-C5 therapy and none of those patients experienced aHUS recurrence during a median follow-up period of 21 (min-max, 9-42) months. Prophylactic eculizumab is a safe and effective treatment for the prevention of aHUS recurrence. Eculizumab interval prolongation, discontinuation, and transplantation without eculizumab prophylaxis can be tried in selected patients with close follow-up.