Publication: The frequency of lysosomal acid lipase deficiency in children with unexplained liver disease
dc.contributor.author | Kuloğlu, Zarife | |
dc.contributor.author | Kansu, Aydan | |
dc.contributor.author | Selbuz, Suna | |
dc.contributor.author | Kalaycı, Ayhan G. | |
dc.contributor.author | Şahin, Gülseren | |
dc.contributor.author | Kırsaçlıoğlu, Ceyda Tuna | |
dc.contributor.author | Demirören, Kaan | |
dc.contributor.author | Dalgıç, Büket | |
dc.contributor.author | Kasırga, Erhun | |
dc.contributor.author | Önal, Zerrin | |
dc.contributor.author | İslek, Ali | |
dc.contributor.author | Eren, Esra | |
dc.contributor.author | Hoşnut, Ferda Özbay | |
dc.contributor.author | Urgancı, Nafiye | |
dc.contributor.author | Yaman, Aytaç | |
dc.contributor.author | Özkan, Tanju | |
dc.contributor.author | Bozbulut, Ekşi | |
dc.contributor.author | Doğan, Güzide | |
dc.contributor.author | Ekşi Bozbulut, Neslihan | |
dc.contributor.author | Doğan, Güzide | |
dc.contributor.author | Durmaz Uğurcan, Özlem | |
dc.contributor.author | Usta, Ayşe Merve | |
dc.contributor.author | Arslan, Duran | |
dc.contributor.author | Akçam, Mustafa | |
dc.contributor.author | Isik, Ishak Abdurrahman | |
dc.contributor.author | Ecevit, Çigdem Ömür | |
dc.contributor.author | Usta, Yusuf | |
dc.contributor.author | Özgür, Taner | |
dc.contributor.author | Özçay, Figen | |
dc.contributor.author | Balamtekin, Necati | |
dc.contributor.author | Öztürk, Yesim | |
dc.contributor.author | Balamtekin, Necati | |
dc.contributor.author | Öztürk, Yeşim | |
dc.contributor.author | Cantez, Serdar | |
dc.contributor.author | Gülerman, Fulya | |
dc.contributor.author | Ustundag, Gonca Handan | |
dc.contributor.author | Emiroğlu, Halil Haldun | |
dc.contributor.author | Karacabey, Neslihan | |
dc.contributor.author | Comba, Atakan | |
dc.contributor.author | Erdemir, Gülin | |
dc.contributor.author | Aydoğan, Aysen Uncuoğlu | |
dc.contributor.author | Gökçe, Selim | |
dc.contributor.author | Kuyum, Pınar | |
dc.contributor.author | Gülsan, Meltem | |
dc.contributor.author | Tosun, Mahya Sultan | |
dc.contributor.author | Tokgöz, Yavuz | |
dc.contributor.author | Güven, Burcu | |
dc.contributor.author | Yüksekkaya, Hasan | |
dc.contributor.author | Tümgör, Gökhan | |
dc.contributor.author | Eren, Makbule | |
dc.contributor.author | Baran, Maşallah | |
dc.contributor.author | Gümüş, Meltem | |
dc.contributor.author | Canan, Oğuz | |
dc.contributor.author | Kocamaz, Halil | |
dc.contributor.author | Gerenli, Nelgin | |
dc.contributor.author | Çakır, Murat | |
dc.contributor.author | Agiı, Mehmet | |
dc.contributor.author | Hızlı, Samil | |
dc.contributor.author | Doğan, Yasar | |
dc.contributor.author | Çeltik, Coşkun | |
dc.contributor.author | Deveci, Uğur | |
dc.contributor.author | Balcı Sezer, Oya | |
dc.contributor.author | Natl Lal-D Study Grp | |
dc.contributor.buuauthor | ÖZKAN, TANJU MUNEVVER | |
dc.contributor.buuauthor | ÖZGÜR, TANER | |
dc.contributor.department | Bursa Uludağ Üniversitesi/Tıp Fakültesi | |
dc.contributor.researcherid | AAG-8416-2021 | |
dc.contributor.researcherid | AAG-8381-2021 | |
dc.date.accessioned | 2024-07-24T07:19:34Z | |
dc.date.available | 2024-07-24T07:19:34Z | |
dc.date.issued | 2019-03-01 | |
dc.description.abstract | Objectives: 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.sponsorship | AstraZeneca | |
dc.identifier.doi | 10.1097/MPG.0000000000002224 | |
dc.identifier.eissn | 1536-4801 | |
dc.identifier.endpage | 376 | |
dc.identifier.issn | 0277-2116 | |
dc.identifier.issue | 3 | |
dc.identifier.startpage | 371 | |
dc.identifier.uri | https://doi.org/10.1097/MPG.0000000000002224 | |
dc.identifier.uri | https://onlinelibrary.wiley.com/doi/10.1097/MPG.0000000000002224 | |
dc.identifier.uri | https://hdl.handle.net/11452/43403 | |
dc.identifier.volume | 68 | |
dc.identifier.wos | 000461077600024 | |
dc.indexed.wos | WOS.SCI | |
dc.language.iso | en | |
dc.publisher | Lippincott | |
dc.relation.journal | Journal of Pediatric Gastroenterology and Nutrition | |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.subject | Ester storage disease | |
dc.subject | Wolman | |
dc.subject | Children | |
dc.subject | Liver | |
dc.subject | Lysosomal acid lipase deficiency | |
dc.subject | Science & technology | |
dc.subject | Life sciences & biomedicine | |
dc.subject | Gastroenterology & hepatology | |
dc.subject | Nutrition & dietetics | |
dc.subject | Pediatrics | |
dc.subject | Gastroenterology & hepatology | |
dc.subject | Nutrition & dietetics | |
dc.subject | Pediatrics | |
dc.title | The frequency of lysosomal acid lipase deficiency in children with unexplained liver disease | |
dc.type | Article | |
dspace.entity.type | Publication | |
relation.isAuthorOfPublication | 6609ed9a-b9d8-4f0e-9551-ce0f8524ff95 | |
relation.isAuthorOfPublication | 84d11a1f-8e67-4a45-a1b0-d5cd72103f80 | |
relation.isAuthorOfPublication.latestForDiscovery | 6609ed9a-b9d8-4f0e-9551-ce0f8524ff95 |
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