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 A.G.
dc.contributor.authorŞahin G.
dc.contributor.authorKirsaclioglu C.T.
dc.contributor.authorDemirören K.
dc.contributor.authorDalgiç B.
dc.contributor.authorKasirga E.
dc.contributor.authorÖnal Z.
dc.contributor.authorIşlek A.
dc.date.accessioned2024-07-22T08:08:49Z
dc.date.available2024-07-22T08:08:49Z
dc.date.issued2019
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). A second 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. © 2019 Lippincott Williams and Wilkins. All rights reserved.
dc.identifier.DOI-ID10.1097/MPG.0000000000002224
dc.identifier.issn02772116
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/14547
dc.language.isoEnglish
dc.publisherLippincott Williams and Wilkins
dc.rightsAll Open Access; Bronze Open Access
dc.subjectAdolescent
dc.subjectChild
dc.subjectChild, Preschool
dc.subjectCross-Sectional Studies
dc.subjectHumans
dc.subjectInfant
dc.subjectLiver Diseases
dc.subjectProspective Studies
dc.subjectTurkey
dc.subjectWolman Disease
dc.subjectadolescent
dc.subjectblood
dc.subjectchild
dc.subjectclinical trial
dc.subjectcross-sectional study
dc.subjecthuman
dc.subjectinfant
dc.subjectliver disease
dc.subjectmulticenter study
dc.subjectpathophysiology
dc.subjectpreschool child
dc.subjectprospective study
dc.subjectturkey (bird)
dc.subjectWolman disease
dc.titleThe frequency of lysosomal acid lipase deficiency in children with unexplained liver disease
dc.typeArticle

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