Browsing by Author "Tümgör, G"

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    The Frequency of Lysosomal Acid Lipase Deficiency in Children With Unexplained Liver Disease
    Kuloglu, Z; Kansu, A; Selbuz, S; Kalayci, AG; Sahin, G; Kirsaclioglu, CT; Demirören, K; Dalgiç, B; Kasirga, E; Önal, Z; Islek, A; Eren, E; Hosnut, FÖ; Urganci, N; Yaman, A; Özkan, T; Bozbulut, E; Dogan, G; Eksi Bozbulut, N; Dogan, G; Durmaz Ugurcan, Ö; Usta, AM; Arslan, D; Akçam, M; Isik, IA; Ecevit, ÇÖ; Usta, Y; Özgür, T; Özçay, F; Balamtekin, N; Öztürk, Y; Balamtekin, N; Öztürk, Y; Cantez, S; Gülerman, F; Üstündag, GH; Emiroglu, HH; Karacabey, N; Comba, A; Erdemir, G; Aydogan, AU; Gökçe, S; Kuyum, P; Gülsan, M; Tosun, MS; Tokgöz, Y; Güven, B; Yüksekkaya, H; Tümgör, G; Eren, M; Baran, M; Gümüs, M; Canan, O; Kocamaz, H; Gerenli, N; Çakir, M; Agin, M; Hizli, S; Dogan, Y; Çeltik, Ç; Deveci, U; Balci Sezer, O
    Objectives: Evidence suggests that lysosomal acid lipase deficiency (LAL-D) is often underdiagnosed because symptoms may be nonspecific. We aimed to investigate the prevalence of LAL-D in children with unexplained liver disease and to identify demographic and clinical features with a prospective, multicenter, cross-sectional study. Methods: Patients (aged 3 months-18 years) who had unexplained transaminase elevation, unexplained hepatomegaly or hepatosplenomegaly, obesity-unrelated liver steatosis, biopsy-proven cryptogenic fibrosis and cirrhosis, or liver transplantation for cryptogenic cirrhosis were enrolled. A Web-based electronic data collection system was used. LAL activity (nmol/punch/h) was measured using the dried blood spot method and classified as LAL-D(<0.02), intermediate (0.02-0.37) or normal (>0.37). Asecond dried blood spot sample was obtained from patients with intermediate LAL activity for confirmation of the result. Results: A total of 810 children (median age 5.6 years) from 795 families were enrolled. The reasons for enrollment were unexplained transaminase elevation (62%), unexplained organomegaly (45%), obesity-unrelated liver steatosis (26%), cryptogenic fibrosis and cirrhosis (6%), and liver transplantation for cryptogenic cirrhosis (<1%). LAL activity was normal in 634 (78%) and intermediate in 174 (21%) patients. LAL-D was identified in 2 siblings aged 15 and 6 years born to unrelated parents. Dyslipidemia, liver steatosis, and mild increase in aminotransferases were common features in these patients. Moreover, the 15-year-old patient showed growth failure and microvesicular steatosis, portal inflammation, and bridging fibrosis in the liver biopsy. Based on 795 families, 2 siblings in the same family were identified as LAL-D cases, making the prevalence of LAL-D in this study population, 0.1% (0.125%-0.606%). In the repeated measurement (76/174), LAL activity remained at the intermediate level in 38 patients. Conclusions: Overall, the frequency of LAL-D patients in this study (0.1%) suggests that LAL-D seems to be rare even in the selected high-risk population.
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    Familial Mediterranean Fever Mutation Analysis in Pediatric Patients With Inflammatory Bowel Disease: A Multicenter Study
    Urganci, N; Ozgenc, F; Kuloglu, Z; Yüksekkaya, H; Sari, S; Erkan, T; Önal, Z; Çaltepe, G; Akçam, M; Arslan, D; Arslan, N; Artan, R; Aydogan, A; Balamtekin, N; Baran, M; Baysoy, G; Çakir, M; Dalgiç, B; Dogan, Y; Durmaz, Ö; Ecevit, Ç; Eren, M; Gökçe, S; Gülerman, F; Gürakan, F; Hizli, S; Isik, I; Kalayci, AG; Kansu, A; Kutlu, T; Karabiber, H; Kasirga, E; Kutluk, G; Hosnut, FÖ; Özen, H; Özkan, T; Öztürk, Y; Soylu, ÖB; Tutar, E; Tümgör, G; Ünal, F; Ugras, M; Ustundag, G; Yaman, A
    Background: the aim of the study was to evaluate familial Mediterranean fever (FMF) mutation analysis in pediatric patients with inflammatory bowel disease (IBD). The relation between MEFV mutations and chronic inflammatory diseases hos been reported previously. Methods: Children with IBD (334 ulcerative colitis (UC), 224 Crohn's disease (CD), 39 indeterminate colitis (IC)) were tested for FMF mutations in this multicenter study. The distribution of mutations according to disease type, histopathological findings, and disease activity indexes was determined. Results: A total of 597 children (mean age: 10.8 +/- 4.6 years, M/F: 1.05) with IBD were included in the study. In this study, 41.9% of the patients had FMF mutations. E148Q was the most common mutation in UC and CD, and M694V in IC (30.5%, 34.5%, 47.1%, respectively). There was a significant difference in terms of endoscopic and histopathological findings according to mutation types (homozygous/heterozygous) in patients with UC (P <.05). There was a statistically significant difference between colonoscopy findings in patients with or without mutations (P=.031, P=.045, respectively). The patients with UC who had mutations had lower Pediatric Ulcerative Colitis Activity Index (PUCAI) scores than the patients without mutations (P=.007). Conclusion: Although FMF mutations are unrelated to CD patients, but observed in UC patients with low PUCAI scores, it was established that mutations do not hove a high impact on inflammatory response and clinical outcome of the disease.