Person: ÖZKAN, TANJU MUNEVVER
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ÖZKAN
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TANJU MUNEVVER
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Publication Familial mediterranean fever mutation analysis in pediatric patients with inflammatory bowel disease: A multicenter study(Aves, 2021-03-01) Urgancı, Nafiye; Özgenç, Funda; Kuloğlu, Zarife; Yüksekkaya, Hasan; Sarı, Sinan; Erkan, Tülay; Önal, Zerrin; Caltepe, Gönul; Akçam, Mustafa; Arslan, Duran; Arslan, Nur; Artan, Reha; Aydoğan, Aysen; Balamtekin, Necati; Baran, Masallah; Baysoy, Gökhan; Çakır, Murat; Dalgıç, Buket; Doğan, Yaşar; Durmaz, Özlem; Ecevit, Çiğdem; Eren, Makbule; Gökçe, Selim; Gülerman, Fulya; Gürakan, Figen; Hızlı, Şamil; Işık, İshak; Kalaycı, Ayhan Gazi; Kansu, Aydan; Kutlu, Tufan; Karabiber, Hamza; Kasırga, Erhun; Kutluk, Günsel; Hoşnut, Ferdağ Özbay; Özen, Hasan; Özkan, Tanju; Öztuürk, Yeiim; Soylu, Özlem Bekem; Tutar, Engin; Tumgör, Gökhan; Unal, Fatih; Uğraş, Meltem; Üstündağ, Gonca; Yaman, Aytaç; ÖZKAN, TANJU MUNEVVER; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Gastroenteroloji Anabilim Dalı.; JGY-1667-2023Background: 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.Publication Vedolizumab treatment in a patient with x-linked agammaglobulinemia, is it safe and efficient?(Türk Pediatri Dergisi, 2019-11-01) Çekiç, Şükrü; Özgür, Taner; Karalı, Yasin; Özkan, Tanju; Kılıç, Sara Şebnem; ÇEKİÇ, ŞÜKRÜ; ÖZGÜR, TANER; KARALI, YASİN; ÖZKAN, TANJU MUNEVVER; KILIÇ GÜLTEKİN, SARA ŞEBNEM; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik Gastroenteroloji Ana Bilim Dalı; 0000-0002-9574-1842; 0000-0001-5740-9729; 0000-0001-8571-2581; AAG-8416-2021; AAG-8381-2021; AAH-1658-2021; L-1933-2017; FFS-1974-2022The loss of inflammatory regulation resulting from the absence of B-lymphocytes leads to a risk for autoimmune and autoinflammatory complications. There is no data on the use of Vedolizumab in patients with X-linked agammaglobulinemia (XLA) as well as children with another primary immunodeficiency (PID) diseases. A 4-year-old boy was admitted to our clinic with a history of recurrent respiratory tract infections. He was diagnosed with XLA based on extremely low immunoglobulins, very low level of B cells, genetic mutation of BTK gene, and family history. At the age of 8, he suffered from intermittent fever attacks, abdominal pain, weakness, oral aft, and weight loss. His clinical and laboratory features were consistent with inflammatory bowel disease. Histopathological examination of the biopsy material obtained from terminal ileum, colon and cecum showed Crohn's disease. Initially, he was treated with prednisolone and infliximab. Because of the lack of response, infliximab treatment was switched to adalimumab. Terminal ileum was resected to relieve obstruction complication. Although he had been treated with adalimumab, a significant improvement was not observed. Vedolizumab (Entyvio (TM)), a humanized monoclonal antibody alpha 4 beta 7 integrin-receptor antagonist, was commenced. After treatment with vedolizumab, his fever and abdominal pain attacks reduced, his total daily calorie intake increased and weight gain improved. He began to walk again and continued his school education properly. No side effects were observed in 18 months. This is the first immunocompromised child treated with vedolizumab. The symptoms of the patient receded and no side effect were seen during the treatment.Publication Vedolizumab treatment in patient with Xla, is it safe and efficient?(Wiley, 2018-08-01) Çekiç, Şükran; Özgür, Taner; Karalı, Yasin; Özkan, Tanju Başarır; Kılıç, S. S.; ÇEKİÇ, ŞÜKRÜ; ÖZGÜR, TANER; KARALI, YASİN; ÖZKAN, TANJU MUNEVVER; Kılıç, S. S.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Gastroenteroloji Bilim Dalı; 0000-0002-9574-1842; 0000-0001-8571-2581; AAG-8381-2021; AAH-1658-2021; GBO-8694-2022; FFS-1974-2022; IGX-1808-2023Publication The frequency of lysosomal acid lipase deficiency in children with unexplained liver disease(Lippincott, 2019-03-01) Kuloğlu, Zarife; Kansu, Aydan; Selbuz, Suna; Kalaycı, Ayhan G.; Şahin, Gülseren; Kırsaçlıoğlu, Ceyda Tuna; Demirören, Kaan; Dalgıç, Büket; Kasırga, Erhun; Önal, Zerrin; İslek, Ali; Eren, Esra; Hoşnut, Ferda Özbay; Urgancı, Nafiye; Yaman, Aytaç; Özkan, Tanju; Bozbulut, Ekşi; Doğan, Güzide; Ekşi Bozbulut, Neslihan; Doğan, Güzide; Durmaz Uğurcan, Özlem; Usta, Ayşe Merve; Arslan, Duran; Akçam, Mustafa; Isik, Ishak Abdurrahman; Ecevit, Çigdem Ömür; Usta, Yusuf; Özgür, Taner; Özçay, Figen; Balamtekin, Necati; Öztürk, Yesim; Balamtekin, Necati; Öztürk, Yeşim; Cantez, Serdar; Gülerman, Fulya; Ustundag, Gonca Handan; Emiroğlu, Halil Haldun; Karacabey, Neslihan; Comba, Atakan; Erdemir, Gülin; Aydoğan, Aysen Uncuoğlu; Gökçe, Selim; Kuyum, Pınar; Gülsan, Meltem; Tosun, Mahya Sultan; Tokgöz, Yavuz; Güven, Burcu; Yüksekkaya, Hasan; Tümgör, Gökhan; Eren, Makbule; Baran, Maşallah; Gümüş, Meltem; Canan, Oğuz; Kocamaz, Halil; Gerenli, Nelgin; Çakır, Murat; Agiı, Mehmet; Hızlı, Samil; Doğan, Yasar; Çeltik, Coşkun; Deveci, Uğur; Balcı Sezer, Oya; Natl Lal-D Study Grp; ÖZKAN, TANJU MUNEVVER; ÖZGÜR, TANER; Bursa Uludağ Üniversitesi/Tıp Fakültesi; AAG-8416-2021; AAG-8381-2021Objectives: 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.