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

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dc.authoridDOGAN, YASAR/0000-0001-9738-9611
dc.authoridEren, Makbule/0000-0002-7105-7165
dc.authoridBaran, Masallah/0000-0003-3827-2039
dc.authoridCanan, Oguz/0000-0003-0614-4497
dc.authoridOzcay, Figen/0000-0002-5214-516X
dc.authoridKuloglu, Zarife/0000-0001-9442-7790
dc.authoridGumus, Meltem/0000-0002-9257-6597
dc.contributor.authorKuloglu, Zarife
dc.contributor.authorKansu, Aydan
dc.contributor.authorSelbuz, Suna
dc.contributor.authorKalayci, Ayhan G.
dc.contributor.authorSahin, Gulseren
dc.contributor.authorKirsaclioglu, Ceyda Tuna
dc.contributor.authorDemiroren, Kaan
dc.date.accessioned2025-01-21T16:45:33Z
dc.date.available2025-01-21T16:45:33Z
dc.date.issued2019
dc.departmentKırıkkale Üniversitesi
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.description.sponsorshipAlexion Pharmaceuticals Inc.
dc.description.sponsorshipThis investigator sponsored research was funded by Alexion Pharmaceuticals Inc.
dc.identifier.doi10.1097/MPG.0000000000002224
dc.identifier.endpage376
dc.identifier.issn0277-2116
dc.identifier.issn1536-4801
dc.identifier.issue3
dc.identifier.pmid30540705
dc.identifier.startpage371
dc.identifier.urihttps://doi.org/10.1097/MPG.0000000000002224
dc.identifier.urihttps://hdl.handle.net/20.500.12587/25672
dc.identifier.volume68
dc.identifier.wosWOS:000461077600024
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherLippincott Williams & Wilkins
dc.relation.ispartofJournal of Pediatric Gastroenterology and Nutrition
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_20241229
dc.subjectchildren; liver; lysosomal acid lipase deficiency
dc.titleThe Frequency of Lysosomal Acid Lipase Deficiency in Children With Unexplained Liver Disease
dc.typeArticle

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