The frequency of lysosomal acid lipase deficiency in children with unexplained liver disease

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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.contributor.authorDalgıç, Buket
dc.contributor.authorKasırga, Erhun
dc.contributor.authorÖnal, Zerrin
dc.contributor.authorİşlek, Ali
dc.contributor.authorNational LAL-D Study Group
dc.date.accessioned2020-03-26T20:19:29Z
dc.date.available2020-03-26T20:19:29Z
dc.date.issued2019
dc.departmentSelçuk Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
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.en_US
dc.description.sponsorshipAlexion Pharmaceuticals Inc.Fukuda Foundation for Medical TechnologyKayamori FoundationKayamori Foundation of Informational Science AdvancementSENSHIN Medical Research FoundationSasagawa Scientific Research Granten_US
dc.description.sponsorshipThis investigator sponsored research was funded by Alexion Pharmaceuticals Inc.en_US
dc.identifier.citationKuloglu, Z., Kansu, A., Selbuz, S., Kalayci, A.G., Sahin, G., Kirsaclioglu, C.T., Demiroren, K., Dalgıç, B., Kasırga, E., Önal, Z., İşlek, A., National LAL-D Study Group.(2019). The Frequency of Lysosomal Acid Lipase Deficiency in Children With Unexplained Liver Disease. Journal Of Pedıatrıc Gastroenterology And Nutrıtıon, 68,(3), 371,376.
dc.identifier.doi10.1097/MPG.0000000000002224en_US
dc.identifier.endpage376en_US
dc.identifier.issn0277-2116en_US
dc.identifier.issn1536-4801en_US
dc.identifier.issue3en_US
dc.identifier.pmid30540705en_US
dc.identifier.startpage371en_US
dc.identifier.urihttps://dx.doi.org/10.1097/MPG.0000000000002224
dc.identifier.urihttps://hdl.handle.net/20.500.12395/38290
dc.identifier.volume68en_US
dc.identifier.wosWOS:000461077600024en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorNational LAL-D Study Group
dc.language.isoenen_US
dc.publisherLIPPINCOTT WILLIAMS & WILKINSen_US
dc.relation.ispartofJOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITIONen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.selcuk20240510_oaigen_US
dc.subjectchildrenen_US
dc.subjectliveren_US
dc.subjectlysosomal acid lipase deficiencyen_US
dc.titleThe frequency of lysosomal acid lipase deficiency in children with unexplained liver diseaseen_US
dc.typeArticleen_US

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