دورية أكاديمية
أعرض في EDS

Lipids Responsible for Intestinal or Hepatic Disorder: When to Suspect a Familial Intestinal Hypocholesterolemia?

التفاصيل البيبلوغرافية
العنوان: Lipids Responsible for Intestinal or Hepatic Disorder: When to Suspect a Familial Intestinal Hypocholesterolemia?
المؤلفون: Sissaoui S; Pediatric Hepatology Unit.; Department of Pediatric Gastroenterology-Hepatology-Nutrition, Reference Center for Biliary Atresia and Genetic Cholestasis, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris (AP-HP), Paris., Cochet M; Pediatric Hepatology Unit.; Department of Pediatric Gastroenterology-Hepatology-Nutrition, Reference Center for Biliary Atresia and Genetic Cholestasis, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris (AP-HP), Paris., Poinsot P; Univ. Lyon, Hospices Civil de Lyon, Gastro-enterology and Pediatric Nutrition, Reference Center for Intestinal Rare Disease (MaRDi), Hôpital Femme Mere Enfant, Bron.; Univ. Lyon, CarMeN Laboratory, INRAE, UMR1397, INSERM, UMR1060, Pierre-Bénite., Bordat C; Univ. Lyon, CarMeN Laboratory, INRAE, UMR1397, INSERM, UMR1060, Pierre-Bénite., Collardeau-Frachon S; Univ. Lyon, Hospices Civil de Lyon, Gastro-enterology and Pediatric Nutrition, Reference Center for Intestinal Rare Disease (MaRDi), Hôpital Femme Mere Enfant, Bron.; Univ. Lyon, CarMeN Laboratory, INRAE, UMR1397, INSERM, UMR1060, Pierre-Bénite.; Univ. Lyon, Hospices Civil de Lyon, Institut de pathologie, Groupement Hospitalier Est, Bron, France., Lachaux A; Univ. Lyon, Hospices Civil de Lyon, Gastro-enterology and Pediatric Nutrition, Reference Center for Intestinal Rare Disease (MaRDi), Hôpital Femme Mere Enfant, Bron.; Univ. Lyon, CarMeN Laboratory, INRAE, UMR1397, INSERM, UMR1060, Pierre-Bénite., Lacaille F; Department of Pediatric Gastroenterology-Hepatology-Nutrition, Reference Center for Biliary Atresia and Genetic Cholestasis, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris (AP-HP), Paris., Peretti N; Univ. Lyon, Hospices Civil de Lyon, Gastro-enterology and Pediatric Nutrition, Reference Center for Intestinal Rare Disease (MaRDi), Hôpital Femme Mere Enfant, Bron.; Univ. Lyon, CarMeN Laboratory, INRAE, UMR1397, INSERM, UMR1060, Pierre-Bénite.
المصدر: Journal of pediatric gastroenterology and nutrition [J Pediatr Gastroenterol Nutr] 2021 Jul 01; Vol. 73 (1), pp. 4-8.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 8211545 Publication Model: Print Cited Medium: Internet ISSN: 1536-4801 (Electronic) Linking ISSN: 02772116 NLM ISO Abbreviation: J Pediatr Gastroenterol Nutr Subsets: MEDLINE
أسماء مطبوعة: Publication: 2024- : [Hoboken, New Jersey] : Wiley
Original Publication: [New York, N.Y.] : Raven Press, [c1982-
مواضيع طبية MeSH: Abetalipoproteinemia*/diagnosis , Abetalipoproteinemia*/genetics , Hypobetalipoproteinemias*/diagnosis , Hypobetalipoproteinemias*/genetics, Adult ; Apolipoproteins B ; Child ; Humans ; Lipids ; Vitamin E
مستخلص: Abstract: Familial intestinal hypocholesterolemias, such as abetalipoproteinemia, hypobetalipoproteinemia, and chylomicron retention disease, are rare genetic diseases that result in a defect in the synthesis or secretion of lipoproteins containing apolipoprotein B.In children, these conditions present with diarrhoea and growth failure, whereas adults present with neuromuscular, ophthalmological, and hepatic symptoms. Simple laboratory investigations have shown that diagnosis can be made from findings of dramatically decreased cholesterol levels, deficiencies in fat-soluble vitamins (mostly vitamin E), endoscopic findings of the characteristic white intestinal mucosa, and fat-loaded enterocytes in biopsy samples. Genetic analysis is used to confirm the diagnosis. Treatment is based on a low-fat diet with essential fatty acid supplementation, high doses of fat-soluble vitamins, and regular and life-long follow-up.The present study examines cases and literature findings of these conditions, and emphasises the need to explore severe hypocholesterolemia and deficiencies in fat-soluble vitamins to not miss these rare, but easy to diagnose and treat, disorders.
Competing Interests: The authors report no conflicts of interest.
(Copyright © 2021 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition.)
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المشرفين على المادة: 0 (Apolipoproteins B)
0 (Lipids)
1406-18-4 (Vitamin E)
تواريخ الأحداث: Date Created: 20210414 Date Completed: 20210712 Latest Revision: 20230822
رمز التحديث: 20240628
DOI: 10.1097/MPG.0000000000003145
PMID: 33853111
قاعدة البيانات: MEDLINE
الوصف
تدمد:1536-4801
DOI:10.1097/MPG.0000000000003145