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Viola, Sheila; Benlian, Pascale; Morali, Alain; Dobbelaere, Dries; Lacaille, Florence; Rieu, Daniel; Ginies, Jean Louis; Maurage, Chantal; Meyer, Martine; Lachaux, Alain; Larchet, Michel; Lenearts, Catherine; Goulet, Olivier; Sarles, Jacques; Mouterde, Olivier; Girardet, Jean Philippe

Apolipoprotein B Arg3500Gln Mutation Prevalence in Children With Hypercholesterolemia: A French Multicenter Study

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  • Medientyp: E-Artikel
  • Titel: Apolipoprotein B Arg3500Gln Mutation Prevalence in Children With Hypercholesterolemia: A French Multicenter Study
  • Beteiligte: Viola, Sheila; Benlian, Pascale; Morali, Alain; Dobbelaere, Dries; Lacaille, Florence; Rieu, Daniel; Ginies, Jean Louis; Maurage, Chantal; Meyer, Martine; Lachaux, Alain; Larchet, Michel; Lenearts, Catherine; Goulet, Olivier; Sarles, Jacques; Mouterde, Olivier; Girardet, Jean Philippe
  • Erschienen: Wiley, 2001
  • Erschienen in: Journal of Pediatric Gastroenterology and Nutrition, 33 (2001) 2, Seite 122-126
  • Sprache: Englisch
  • DOI: 10.1002/j.1536-4801.2001.tb07422.x
  • ISSN: 0277-2116; 1536-4801
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: ABSTRACTBackgroundFamilial defective apolipoprotein B‐100, a dominantly inherited form of hypercholesterolemia caused by a single Arg3500Gln mutation, is silent in childhood but may confer a high risk of cardiovascular disease in adulthood. The objective was to determine the prevalence of familial defective apolipoprotein B‐100 in hypercholesterolemic French children and to provide a basis for targeting screening efforts in this population.MethodsOne hundred ninety children attending 13 pediatric clinics distributed throughout France were included based on the presence of type IIa hypercholesterolemia with a plasma low‐density lipoprotein–cholesterol level of more than 130 mg/dL. The Arg3500Gln mutation was detected in dried blood spots using a polymerase chain reaction assay combined with enzymatic restriction.ResultsThree hyperlipidemia phenotypes were found: monogenic dominant pure hypercholesterolemia (n = 117), polygenic hypercholesterolemia (n = 43), and combined hyperlipidemia (n = 11). Three unrelated children were heterozygous for the Arg3500Gln mutation; all three had monogenic dominant pure hypercholesterolemia (3/94 families; 3.2%), yielding a prevalence of 1.83% (3/164) in hypercholesterolemic children, which is similar to prevalences reported in European adults.ConclusionsThe familial defective apolipoprotein B‐100 mutation was common (1/31) in children with a phenotype of familial hypercholesterolemia, supporting screening in this population with the goal of preventing premature cardiovascular events.
  • Zugangsstatus: Freier Zugang