1. Unexplained Liver Disease
- Author
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Kuloglu, Z, Kansu, A, Selbuz, S, Kalayci, AG, Sahin, G, Kirsaclioglu, CT, Demiroren, K, Dalgic, B, Kasirga, E, Onal, Z, Islek, A, Eren, E, Hosnut, FO, Urganci, N, Yaman, A, Ozkan, T, Bozbulut, E, Dogan, G, Eksi Bozbulut, N, Durmaz Ugurcan, O, Usta, AM, Arslan, D, Akcam, M, Isik, IA, Ecevit, CO, Usta, Y, Ozgur, T, Ozcay, F, Balamtekin, N, Ozturk, Y, Cantez, S, Gulerman, F, Ustundag, GH, Emiroglu, HH, Karacabey, N, Comba, A, Erdemir, G, Aydogan, AU, Gokce, S, Kuyum, P, Gulsan, M, Tosun, MS, Tokgoz, Y, Guven, B, Yuksekkaya, H, Tumgor, G, Eren, M, Baran, M, Gumus, M, Canan, O, Kocamaz, H, Gerenli, N, Cakir, M, Agin, M, Hizli, S, Dogan, Y, Celtik, C, Deveci, U, and Balci Sezer, O
- Abstract
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(0.37). 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 (
- Published
- 2019