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

dc.contributor.authorKuloğlu, Zarife
dc.contributor.authorKansu, Aydan
dc.contributor.authorSelbuz, Suna
dc.contributor.authorKalaycı, Ayhan G.
dc.contributor.authorŞahin, Gülseren
dc.contributor.authorKırsaçlıoğlu, Ceyda Tuna
dc.contributor.authorDemirören, Kaan
dc.contributor.authorDalgıç, Büket
dc.contributor.authorKasırga, Erhun
dc.contributor.authorÖnal, Zerrin
dc.contributor.authorİslek, Ali
dc.contributor.authorEren, Esra
dc.contributor.authorHoşnut, Ferda Özbay
dc.contributor.authorUrgancı, Nafiye
dc.contributor.authorYaman, Aytaç
dc.contributor.authorÖzkan, Tanju
dc.contributor.authorBozbulut, Ekşi
dc.contributor.authorDoğan, Güzide
dc.contributor.authorEkşi Bozbulut, Neslihan
dc.contributor.authorDoğan, Güzide
dc.contributor.authorDurmaz Uğurcan, Özlem
dc.contributor.authorUsta, Ayşe Merve
dc.contributor.authorArslan, Duran
dc.contributor.authorAkçam, Mustafa
dc.contributor.authorIsik, Ishak Abdurrahman
dc.contributor.authorEcevit, Çigdem Ömür
dc.contributor.authorUsta, Yusuf
dc.contributor.authorÖzgür, Taner
dc.contributor.authorÖzçay, Figen
dc.contributor.authorBalamtekin, Necati
dc.contributor.authorÖztürk, Yesim
dc.contributor.authorBalamtekin, Necati
dc.contributor.authorÖztürk, Yeşim
dc.contributor.authorCantez, Serdar
dc.contributor.authorGülerman, Fulya
dc.contributor.authorUstundag, Gonca Handan
dc.contributor.authorEmiroğlu, Halil Haldun
dc.contributor.authorKaracabey, Neslihan
dc.contributor.authorComba, Atakan
dc.contributor.authorErdemir, Gülin
dc.contributor.authorAydoğan, Aysen Uncuoğlu
dc.contributor.authorGökçe, Selim
dc.contributor.authorKuyum, Pınar
dc.contributor.authorGülsan, Meltem
dc.contributor.authorTosun, Mahya Sultan
dc.contributor.authorTokgöz, Yavuz
dc.contributor.authorGüven, Burcu
dc.contributor.authorYüksekkaya, Hasan
dc.contributor.authorTümgör, Gökhan
dc.contributor.authorEren, Makbule
dc.contributor.authorBaran, Maşallah
dc.contributor.authorGümüş, Meltem
dc.contributor.authorCanan, Oğuz
dc.contributor.authorKocamaz, Halil
dc.contributor.authorGerenli, Nelgin
dc.contributor.authorÇakır, Murat
dc.contributor.authorAgiı, Mehmet
dc.contributor.authorHızlı, Samil
dc.contributor.authorDoğan, Yasar
dc.contributor.authorÇeltik, Coşkun
dc.contributor.authorDeveci, Uğur
dc.contributor.authorBalcı Sezer, Oya
dc.contributor.authorNatl Lal-D Study Grp
dc.contributor.buuauthorÖZKAN, TANJU MUNEVVER
dc.contributor.buuauthorÖZGÜR, TANER
dc.contributor.departmentBursa Uludağ Üniversitesi/Tıp Fakültesi
dc.contributor.researcheridAAG-8416-2021
dc.contributor.researcheridAAG-8381-2021
dc.date.accessioned2024-07-24T07:19:34Z
dc.date.available2024-07-24T07:19:34Z
dc.date.issued2019-03-01
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.sponsorshipAstraZeneca
dc.identifier.doi10.1097/MPG.0000000000002224
dc.identifier.eissn1536-4801
dc.identifier.endpage376
dc.identifier.issn0277-2116
dc.identifier.issue3
dc.identifier.startpage371
dc.identifier.urihttps://doi.org/10.1097/MPG.0000000000002224
dc.identifier.urihttps://onlinelibrary.wiley.com/doi/10.1097/MPG.0000000000002224
dc.identifier.urihttps://hdl.handle.net/11452/43403
dc.identifier.volume68
dc.identifier.wos000461077600024
dc.indexed.wosWOS.SCI
dc.language.isoen
dc.publisherLippincott
dc.relation.journalJournal of Pediatric Gastroenterology and Nutrition
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectEster storage disease
dc.subjectWolman
dc.subjectChildren
dc.subjectLiver
dc.subjectLysosomal acid lipase deficiency
dc.subjectScience & technology
dc.subjectLife sciences & biomedicine
dc.subjectGastroenterology & hepatology
dc.subjectNutrition & dietetics
dc.subjectPediatrics
dc.subjectGastroenterology & hepatology
dc.subjectNutrition & dietetics
dc.subjectPediatrics
dc.titleThe frequency of lysosomal acid lipase deficiency in children with unexplained liver disease
dc.typeArticle
dspace.entity.typePublication
relation.isAuthorOfPublication6609ed9a-b9d8-4f0e-9551-ce0f8524ff95
relation.isAuthorOfPublication84d11a1f-8e67-4a45-a1b0-d5cd72103f80
relation.isAuthorOfPublication.latestForDiscovery6609ed9a-b9d8-4f0e-9551-ce0f8524ff95

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