The Frequency of Lysosomal Acid Lipase Deficiency in Children With Unexplained Liver Disease

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dc.contributor.authorKuloglu, Z
dc.contributor.authorKansu, A
dc.contributor.authorSelbuz, S
dc.contributor.authorKalayci, AG
dc.contributor.authorSahin, G
dc.contributor.authorKirsaclioglu, CT
dc.contributor.authorDemirören, K
dc.contributor.authorDalgiç, B
dc.contributor.authorKasirga, E
dc.contributor.authorÖnal, Z
dc.contributor.authorIslek, A
dc.contributor.authorEren, E
dc.contributor.authorHosnut, FÖ
dc.contributor.authorUrganci, N
dc.contributor.authorYaman, A
dc.contributor.authorÖzkan, T
dc.contributor.authorBozbulut, E
dc.contributor.authorDogan, G
dc.contributor.authorEksi Bozbulut, N
dc.contributor.authorDogan, G
dc.contributor.authorDurmaz Ugurcan, Ö
dc.contributor.authorUsta, AM
dc.contributor.authorArslan, D
dc.contributor.authorAkçam, M
dc.contributor.authorIsik, IA
dc.contributor.authorEcevit, ÇÖ
dc.contributor.authorUsta, Y
dc.contributor.authorÖzgür, T
dc.contributor.authorÖzçay, F
dc.contributor.authorBalamtekin, N
dc.contributor.authorÖztürk, Y
dc.contributor.authorBalamtekin, N
dc.contributor.authorÖztürk, Y
dc.contributor.authorCantez, S
dc.contributor.authorGülerman, F
dc.contributor.authorÜstündag, GH
dc.contributor.authorEmiroglu, HH
dc.contributor.authorKaracabey, N
dc.contributor.authorComba, A
dc.contributor.authorErdemir, G
dc.contributor.authorAydogan, AU
dc.contributor.authorGökçe, S
dc.contributor.authorKuyum, P
dc.contributor.authorGülsan, M
dc.contributor.authorTosun, MS
dc.contributor.authorTokgöz, Y
dc.contributor.authorGüven, B
dc.contributor.authorYüksekkaya, H
dc.contributor.authorTümgör, G
dc.contributor.authorEren, M
dc.contributor.authorBaran, M
dc.contributor.authorGümüs, M
dc.contributor.authorCanan, O
dc.contributor.authorKocamaz, H
dc.contributor.authorGerenli, N
dc.contributor.authorÇakir, M
dc.contributor.authorAgin, M
dc.contributor.authorHizli, S
dc.contributor.authorDogan, Y
dc.contributor.authorÇeltik, Ç
dc.contributor.authorDeveci, U
dc.contributor.authorBalci Sezer, O
dc.date.accessioned2024-07-18T12:08:45Z
dc.date.available2024-07-18T12:08:45Z
dc.description.abstractObjectives: 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.
dc.identifier.issn0277-2116
dc.identifier.other1536-4801
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/11059
dc.language.isoEnglish
dc.publisherLIPPINCOTT WILLIAMS & WILKINS
dc.subjectESTER STORAGE DISEASE
dc.subjectWOLMAN
dc.titleThe Frequency of Lysosomal Acid Lipase Deficiency in Children With Unexplained Liver Disease
dc.typeArticle

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