Article Dans Une Revue Clinica Chimica Acta Année : 2021

Large-scale screening of lipase acid deficiency in at risk population

1 GPMCND - Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques
2 CHU Rouen
3 UTM - Tunis El Manar University [University of Tunis El Manar] [Tunisia] = Université de Tunis El Manar [Tunisie] = جامعة تونس المنار (ar)
4 Hôpital Necker - Enfants Malades [AP-HP]
5 Imagine - U1163 - Imagine - Institut des maladies génétiques (IHU)
6 C3M - Centre méditerranéen de médecine moléculaire
7 CHU Clermont-Ferrand
8 CHU Strasbourg - Centre Hospitalier Universitaire [Strasbourg]
9 NuMeCan - Nutrition, Métabolismes et Cancer
10 Centre Hospitalier Universitaire de Rennes [CHU Rennes] = Rennes University Hospital [Pontchaillou]
11 Batna 2 - Université de Batna 2 - Mostefa Ben Boulaid
12 Hôpitaux La Rochelle Ré Aunis [Groupe hospitalier littoral Atlantique]
13 CHRU Nancy - Centre Hospitalier Régional Universitaire de Nancy
14 CHU Nantes - Centre Hospitalier Universitaire de Nantes = Nantes University Hospital
15 HEGP - Hôpital Européen Georges Pompidou [APHP]
16 CHU Pessac
17 Equipe AGING (CERPOP)
18 Service Cardiologie [CHU Toulouse]
19 CHU Toulouse - Centre Hospitalier Universitaire de Toulouse
20 Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB)
21 IAB - Institute for Advanced Biosciences / Institut pour l'Avancée des Biosciences (Grenoble)
22 CHU Caen Normandie - CHU Caen Normandie – Centre Hospitalier Universitaire de Caen Normandie
23 GRAP - Groupe de Recherche sur l'alcool et les pharmacodépendances - UMR INSERM_S 1247 UPJV
24 Institut Arnault Tzanck
25 CHRU Tours - Centre Hospitalier Régional Universitaire de Tours
26 CRSA - Centre de Recherche Saint-Antoine
27 Hôpital Bicêtre [AP-HP, Le Kremlin-Bicêtre]
28 CHRU Besançon - Centre Hospitalier Régional Universitaire de Besançon
29 CHU Nice [Cimiez]
30 LNC - Lipides - Nutrition - Cancer [Dijon - U1231]
31 CHUGA - CHU de Grenoble-Alpes - Centre Hospitalier Universitaire CHU Grenoble
Armand Abergel
Victor de Ledinghen
Michel Krempf
  • Fonction : Auteur
Denis Ouzan

Résumé

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.

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hal-03223991 , version 1 (11-06-2021)

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Abdellah Tebani, Bénédicte Sudrié-Arnaud, Hela Boudabous, Anais Brassier, Rodolphe Anty, et al.. Large-scale screening of lipase acid deficiency in at risk population. Clinica Chimica Acta, 2021, 519 (.), pp.64-69. ⟨10.1016/j.cca.2021.04.005⟩. ⟨hal-03223991⟩
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