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Tytuł:
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Large-scale screening of lipase acid deficiency in at risk population.
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Autorzy:
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Tebani A; Normandie Univ, UNIROUEN, INSERM U1245, CHU Rouen, Department of Metabolic Biochemistry, 76000 Rouen, France.
Sudrié-Arnaud B; Normandie Univ, UNIROUEN, INSERM U1245, CHU Rouen, Department of Metabolic Biochemistry, 76000 Rouen, France.
Boudabous H; Pediatric Department, La Rabta Hospital, Faculty of Medecine of Tunis, University of Tunis El Manar, Jabberi, Jebal Lakhdhar, Tunis, Tunisia.
Brassier A; Reference Center of Inherited Metabolic Diseases, Necker Enfants Malades Hospital, Imagine Institute, University Paris Descartes, AP-HP, 75015 Paris, France.
Anty R; INSERM, U1065, C3M, Team 8 'Hepatic Complications in Obesity', Nice, France.
Snanoudj S; Normandie Univ, UNIROUEN, INSERM U1245, CHU Rouen, Department of Metabolic Biochemistry, 76000 Rouen, France.
Abergel A; Department of Digestive Medicine, CHU Estaing, Clermont-Ferrand, France.
Abi Warde MT; Pediatric Neurology Department, CHU Strasbourg, France. Electronic address: .
Bardou-Jacquet E; Univ Rennes, INSERM, Institut Numecan, Liver Disease Unit, CHU de Rennes, F-35000 Rennes, France.
Belbouab R; Pediatric Department, University Hospital Center Mustapha Bacha, 16000 Algiers, Algeria.
Blanchet E; Service Hépatologie-Gastroenterologie, Groupe Hospitalier La Rochelle-Ré-Aunis, La Rochelle, France.
Borderon C; Clermont-Ferrand University Hospital, Clermont-Ferrand, France.
Bronowicki JP; Department of Hepato-Gastroenterology, Centre Hospitalo-Universitaire de Nancy, 54000 Nancy, France.
Cariou B; Université de Nantes, CHU de Nantes, CNRS, INSERM, L'institut du thorax, Department of Endocrinology-Diabetology-Nutrition, F-44000 Nantes, France.
Carette C; AP-HP, Department of Nutrition, Centre spécialisé de l'Obesité Hôpital Européen Georges Pompidou, Paris University, Paris, France.
Dabbas M; AP-HP, Nutrition Obesity Unit, Necker Hospital, Paris, France.
Dranguet H; Normandie Univ, UNIROUEN, INSERM U1245, CHU Rouen, Department of Metabolic Biochemistry, 76000 Rouen, France.
de Ledinghen V; Hepatology Unit, University Hospital, CHU Bordeaux, Pessac, France.
Ferrières J; Department of Cardiology and UMR INSERM 1027, Toulouse University School of Medicine, Toulouse, TSA 50032 31059, France.
Guillaume M; Service d'Hépatologie CHU Toulouse Rangueil, Institut Cardiomet et Université Paul Sabatier, Toulouse, France.
Krempf M; Endocrinology, Metabolic Diseases and Nutrition, ELSAN, Clinique Breteché, Nantes, France.
Lacaille F; Gastroenterology Hepatology Nutrition Unit, Hôpital Necker-Enfants Malades, Paris, France.
Larrey D; Liver and Transplantation Unit, Montpellier School of Medicine and IRB-INSERM-1183, Montpellier, France.
Leroy V; Service d'Hépato-Gastroentérologie, Centre Hospitalier Universitaire Grenoble-Alpes, INSERM U1209, Université Grenoble-Alpes, Grenoble, France.
Musikas M; Department of Hepato-Gastroenterology and Nutrition, Caen University Hospital, France.
Nguyen-Khac E; Service d'Hépato-Gastroentérologie, Amiens University Hospital, and Equipe Région INSERM 24, University of Picardy, Amiens, France.
Ouzan D; Institut Arnaud Tzanck, Service d'Hépatologie, St Laurent du Var, France.
Perarnau JM; Service d'Hépato-gastroentérologie, Centre Hospitalo-Universitaire, Tours, France.
Pilon C; Normandie Univ, UNIROUEN, INSERM U1245, CHU Rouen, Department of Metabolic Biochemistry, 76000 Rouen, France.
Ratzlu V; Department of Hepatology, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique Hopitaux de Paris, Paris, France; University Pierre et Marie Curie, Institut National de la Santé et de la Recherche Médicale UMR 938, Paris, France.
Thebaut A; Pediatric Hepatology & Pediatric Liver Transplant Department, Centre de Référence de l'Atrésie des Voies Biliaires et des Cholestases Génétiques (AVB-CG), Filière de Santé des Maladies Rares du Foie de l'enfant et de l'adulte (FILFOIE), European Reference Network RARE-LIVER, Assistance Publique-Hôpitaux de Paris, Faculty of Medecine Paris-Saclay, CHU Bicêtre, Le Kremlin-Bicêtre, France.
Thevenot T; Centre Hospitalier Universitaire de Besançon, Hôpital Jean Minjoz, Service d'Hépatologie et de Soins Intensifs Digestifs, Besançon, France.
Tragin I; Normandie Univ, UNIROUEN, INSERM U1245, CHU Rouen, Department of Metabolic Biochemistry, 76000 Rouen, France.
Triolo V; CHU de Nice, Hôpital Lenval, Nice, France.
Vergès B; Université de Bourgogne, Centre de Recherche INSERM LNC-UMR1231; Service de Diabétologie et Endocrinologie, CHU François Mitterand, BP 77908, Dijon cedex 21079, France.
Vergnaud S; Department of Biochemistry Toxicology and Pharmacology, Grenoble University Hospital, La Tronche, France.
Bekri S; Normandie Univ, UNIROUEN, INSERM U1245, CHU Rouen, Department of Metabolic Biochemistry, 76000 Rouen, France. Electronic address: .
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Źródło:
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Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2021 Aug; Vol. 519, pp. 64-69. Date of Electronic Publication: 2021 Apr 20.
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Typ publikacji:
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Journal Article
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Język:
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English
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Imprint Name(s):
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Original Publication: Amsterdam, Elsevier.
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MeSH Terms:
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Cholesterol Ester Storage Disease*/diagnosis
Cholesterol Ester Storage Disease*/genetics
Wolman Disease*/diagnosis
Wolman Disease*/genetics
Cholesterol Esters ; Female ; Humans ; Infant, Newborn ; Lipase ; Pregnancy ; Sterol Esterase/genetics
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Contributed Indexing:
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Keywords: Acid lipase deficiency; CESD; Cholesterol ester storage disease; DBS; Dried blood spot; LAL; Screening; Wolman
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Substance Nomenclature:
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0 (Cholesterol Esters)
EC 3.1.1.13 (Sterol Esterase)
EC 3.1.1.3 (Lipase)
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Entry Date(s):
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Date Created: 20210415 Date Completed: 20210621 Latest Revision: 20210621
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Update Code:
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20240104
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DOI:
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10.1016/j.cca.2021.04.005
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PMID:
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33857477
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Background: Lysosomal acid lipase deficiency (LALD, OMIM#278000) is a rare lysosomal disorder with an autosomal recessive inheritance. The main clinical manifestations are related to a progressive accumulation of cholesteryl esters, triglycerides or both within the lysosome in different organs such as the liver, spleen, and cardiovascular system. A wide range of clinical severity is associated with LALD including a severe very rare antenatal/neonatal/infantile phenotype named Wolman disease and a late-onset form named cholesteryl ester storage disease (CESD).
Methods: This study aimed to investigate a cohort of at-risk patients (4174) presenting with clinical or biological signs consistent with LALD using the assessment of LAL activity on dried blood spots.
Results: LAL activity was lower than 0.05 nmol/punch/L (cut-off: 0.12) in 19 patients including 13 CESD and 6 Wolman. Molecular study has been conducted in 17 patients and succeeded in identifying 34 mutated alleles. Fourteen unique variants have been characterized, 7 of which are novel.
Conclusion: This study allowed to identify a series of patients and expanded the molecular spectrum knowledge of LALD. Besides, a new screening criteria grid based on the clinical/biological data from our study and the literature has been proposed in order to enhance the diagnosis rate in at risk populations.
(Copyright © 2021 Elsevier B.V. All rights reserved.)
