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    Gastrointestinal features of pediatric iga vasculitis and their association with renal complications: an observational study
    (Springer, 2025) Saglam, Mukaddes Kilic; Yildirim, Sema; Ergueven, Mueferet; Sungur, Mehmet Ali
    Immunoglobulin A (IgA) vasculitis is the most common systemic vasculitis in childhood, primarily affecting the skin, gastrointestinal system (GIS), joints, and kidneys. This study aimed to evaluate the clinical and laboratory characteristics of mild and severe GIS involvement in pediatric patients with IgA vasculitis and to investigate its association with renal involvement. A retrospective review was conducted on 794 pediatric patients diagnosed with IgA vasculitis between 1997 and 2024. Demographic data, clinical findings, and laboratory parameters were collected from patient records. GIS involvement was classified as mild (abdominal pain, vomiting, or occult blood in stool) or severe (melena, hematochezia, or intussusception). Renal involvement was defined based on hematuria, proteinuria, hypertension, or renal insufficiency. Among 794 patients, 430 (54.2%) were male, with a mean age at diagnosis of 7.8 +/- 3.3 years. GIS involvement was observed in 422 (53.1%) patients, of whom 333 (78.9%) had mild GIS involvement and 89 (21.1%) had severe GIS involvement. Renal involvement was detected in 171 (21.5%) patients, and was more frequent in those with GIS involvement (26.3% vs. 16.1%, p = 0.001). GIS (55.6% (n = 306) vs. 47.1% (n = 115)) and renal (24.5% (n = 134) vs. 15.2% (n = 37)) involvement were more common in patients aged > 5 years than in patients <= 5 years (p = 0.027, p = 0.004, respectively). GIS involvement was significantly associated with leukocytosis (p < 0.001) and elevated C-reactive protein (CRP) (p = 0.018), but these parameters did not correlate with renal involvement. Patients with positive fecal occult blood tests had a significantly higher risk of renal involvement (p < 0.001). However, there was no significant difference in renal involvement between patients with mild and severe GIS involvement (p = 0.082). Conclusion: GIS involvement, older age (> 5 years), and the presence of occult blood in stool were associated with a higher likelihood of renal involvement in pediatric IgA vasculitis. However, the severity of GIS involvement did not correlate with renal involvement, suggesting that renal pathology may be influenced by independent mechanisms rather than the severity of GIS symptoms.
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    Increasing Importance of Genotype-Phenotype Correlations Associated with Common and Rare MEFV Gene Mutations in FMF Patients in the Last Thirty Years
    (Mdpi, 2025) Yildirim, Sema; Bekis Bozkurt, Hayrunnisa; Erguven, Muferet
    Background/Objectives: Studies have shown that some mutations, especially M694V, are correlated with renal RI and/or AA. There are limited data about rare mutations on severity of the disease and RI. Today, evaluating genotype-phenotype correlations in rare mutations is important to better understand FMF. We aimed to evaluate clinical, demographic and genetic changes and genotype-phenotype correlations in pediatric patients with FMF over thirty years as well as the importance of the rare mutations. Methods: A total of 2765 pediatric patients with FMF were included in this study. Genetic results were firstly divided into ten groups including rare mutations. Rare mutations were seen in 2% of all patients and divided into eight groups. Results: There was a significant increase in compound heterozygous mutations, E148Q het/hom, R202Q het/hom, complex mutations and rare mutations in the last decade. RI wo AA was 5.8% and AA was 1% in the patients with rare mutations. While M694V and compound het with M694V were positively correlated with severe PRAS, E148Q and V726A were negatively correlated with severe PRAS (p < 0.05, R = 0.137, R = -0.077, R= -0.05, respectively). Although K695R mutation was negatively correlated with severe PRAS (p < 0.05, R = -0.04), the rate of RI was 20%. Although the rare mutation R761H was negatively correlated with severe PRAS (p < 0.05, R = -0.051), the colchicine resistance rate was 8.3%. Conclusions: It may be misleading for clinicians that mutations which have increased in frequency over the years are clinically mild. RI and AA rates in rare mutations are not less than the related rates in common mutations.
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    MEFV Gene Mutation Analysis in Children with Immunoglobulin A Vasculitis and Its Effects on Clinical Manifestations: A Big Series from a Tertiary Center
    (Galenos Publ House, 2024) Yildirim, Sema; Karakaya, Zeynep; Ozcay, Ozlem; Erguven, Muferet
    Aim: Immunoglobulin A vasculitis (IgAV) is the most common vasculitis of childhood, but its pathogenesis is largely unknown, despite evidence pointing to various environmental and genetic factors. We investigated the frequency of MEFV gene mutations that are considered in the pathogenesis and their effect on the clinical features of patients with IgAV. Methods: The study included 244 children diagnosed with IgAV, who underwent MEFV gene analyses. We recorded the demographic and clinical characteristics of the patients, along with their laboratory results. We grouped the patients based on the presence of MEFV gene mutations and MEFV variants. Results: At least one MEFV mutation was detected in 89 (36.5%) patients, with E148Q being the most common (n=31, 34.8%). Age at diagnosis and the frequency of hematuria and recurrence were significantly greater among patients with MEFV mutations (p=0.043, p=0.008, and p=0.009, respectively). Serum IgA levels were significantly higher in patients with the M694V mutation (p=0.040). Conclusion: The presence of MEFV mutations, particularly E148Q and M694V, could be associated with the development and clinical course of IgA vasculitis.