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

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.

Yazar Kuloglu, Zarife
Kansu, Aydan
Selbuz, Suna
Kalayci, Ayhan G.
Sahin, Gulseren
Kirsaclioglu, Ceyda Tuna
Demiroren, Kaan
Yayın Türü Article
Tek Biçim Adres https://hdl.handle.net/20.500.12628/3593
Tek Biçim Adres 10.1097/MPG.0000000000002224
Konu Başlıkları children
liver
lysosomal acid lipase deficiency
Koleksiyonlar Araştırma Çıktıları | WoS | Scopus | TR-Dizin | PubMed | SOBİAD
PubMed İndeksli Yayınlar Koleksiyonu
WoS İndeksli Yayınlar Koleksiyonu
Dergi Adı JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
Dergi Cilt Bilgisi 68
Dergi Sayısı 3
Sayfalar 371 - 376
Yayın Yılı 2019
Eser Adı
[dc.title]
The Frequency of Lysosomal Acid Lipase Deficiency in Children With Unexplained Liver Disease
Yazar
[dc.contributor.author]
Kuloglu, Zarife
Yazar
[dc.contributor.author]
Kansu, Aydan
Yazar
[dc.contributor.author]
Selbuz, Suna
Yazar
[dc.contributor.author]
Kalayci, Ayhan G.
Yazar
[dc.contributor.author]
Sahin, Gulseren
Yazar
[dc.contributor.author]
Kirsaclioglu, Ceyda Tuna
Yazar
[dc.contributor.author]
Demiroren, Kaan
Yayın Yılı
[dc.date.issued]
2019
Yayıncı
[dc.publisher]
LIPPINCOTT WILLIAMS & WILKINS
Yayın Türü
[dc.type]
article
Özet
[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.
Açıklama
[dc.description]
WOS: 000461077600024
Açıklama
[dc.description]
PubMed: 30540705
Kayıt Giriş Tarihi
[dc.date.accessioned]
2019-12-23
Açık Erişim Tarihi
[dc.date.available]
2019-12-23
Yayın Dili
[dc.language.iso]
eng
Konu Başlıkları
[dc.subject]
children
Konu Başlıkları
[dc.subject]
liver
Konu Başlıkları
[dc.subject]
lysosomal acid lipase deficiency
Haklar
[dc.rights]
info:eu-repo/semantics/closedAccess
ISSN
[dc.identifier.issn]
0277-2116
ISSN
[dc.identifier.issn]
1536-4801
Sponsor YAYINCI
[dc.description.sponsorship]
Alexion Pharmaceuticals Inc.Fukuda Foundation for Medical TechnologyKayamori FoundationKayamori Foundation of Informational Science AdvancementSENSHIN Medical Research FoundationSasagawa Scientific Research Grant
Sponsor YAYINCI
[dc.description.sponsorship]
This investigator sponsored research was funded by Alexion Pharmaceuticals Inc.
İlk Sayfa Sayısı
[dc.identifier.startpage]
371
Son Sayfa Sayısı
[dc.identifier.endpage]
376
Dergi Adı
[dc.relation.journal]
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
Dergi Sayısı
[dc.identifier.issue]
3
Dergi Cilt Bilgisi
[dc.identifier.volume]
68
Tek Biçim Adres
[dc.identifier.uri]
https://dx.doi.org/10.1097/MPG.0000000000002224
Tek Biçim Adres
[dc.identifier.uri]
https://hdl.handle.net/20.500.12628/3593
Görüntülenme Sayısı ( Şehir )
Görüntülenme Sayısı ( Ülke )
Görüntülenme Sayısı ( Zaman Dağılımı )
Görüntülenme
177
09.12.2022 tarihinden bu yana
İndirme
1
09.12.2022 tarihinden bu yana
Son Erişim Tarihi
14 Temmuz 2024 01:36
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Tıklayınız
unexplained patients cirrhosis cryptogenic intermediate activity steatosis fibrosis obesity-unrelated years) transaminase population elevation transplantation enrolled normal suggests families identified features siblings children prevalence increase unrelated common parents aminotransferases Dyslipidemia Moreover Objectives 15-year-old Conclusions repeated measurement
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