Browsing by Author "Comba, Atakan"

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    Karında kitlenin nadir bir nedeni: Trikobezoar
    (Uludağ Üniversitesi, 2013-06-24) Comba, Atakan; Çaltepe, Gönül; Yüce, Özlem; Rızalar, Rıza; Kalaycı, Ayhan Gazi
    Bezoar, sindirilemeyen maddelerin gastrointestinal sistem içinde birikmesiyle oluşan kitlelere verilen isimdir. Gerçek sıklığı bilinmemekle birlikte çocuklarda nadirdir. Trikobezoar özellikle psikiyatrik veya nörolojik sorunu olan genç adolesan kızlarda görülmektedir. Burada karın ağrısı ve kusma şikayeti olan on beş yaşında bir kız olgu sunuldu. Fizik muayenesinde karında ağrısız kitle saptanan hastaya endoskopi ile trikobezoar tanısı kondu. Laparotomi ile hastanın midesi tamamen dolduran 1,5 kilo ağırlığında ve mide şeklini almış olan trikobezoar çıkarıldı. Yapılan psikiyatrik değerlendirmede hafif mental retardasyon ve obsesif kompulsif bozukluk saptandı. Psikiyatrik problemi olan genç kız çocukları karın ağrısı, kusma gibi gastrointestinal sistem semptomları ile başvurduğunda, trikobezoar olasılığı akılda tutulmalıdır.
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    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-8381-2021
    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.