婴儿猝死综合征与脂肪酸β氧化的遗传性疾病
Sudden infant death syndrome and inherited disorders of fatty acid beta-oxidation.
作者信息
Harpey J P, Charpentier C, Paturneau-Jouas M
机构信息
Clinique de Pédiatrie Génétique Médicale, Unité de Maladies Métaboliques, Hôpital de la Salpêtrière, Paris, France.
出版信息
Biol Neonate. 1990;58 Suppl 1:70-80. doi: 10.1159/000243301.
Evidence that inherited disorders of mitochondrial fatty acid beta-oxidation can cause sudden infant death syndrome (SIDS) comes from case reports, systematic autopsy studies, and family studies. Family studies are important when no pediatric autopsy has been done, which is still frequent. After reviewing the fatty acid beta-oxidation, and its pathophysiology, we present the results of our metabolic study on 189 siblings of SIDS victims, and on 84 'near-miss' infants. We have found evidence for a disorder of fat oxidation in 28 (15%) infants in the first group, and in 14 (17%) infants in the second group. Diagnosing and treating such disorders early in infancy may prevent some cases of SIDS to occur.
线粒体脂肪酸β氧化遗传性疾病可导致婴儿猝死综合征（SIDS）的证据来自病例报告、系统尸检研究和家族研究。当未进行儿科尸检时（这种情况仍然很常见），家族研究就很重要。在回顾了脂肪酸β氧化及其病理生理学之后，我们展示了对189名SIDS受害者的兄弟姐妹以及84名“濒死”婴儿进行的代谢研究结果。我们发现第一组中有28名（15%）婴儿以及第二组中有14名（17%）婴儿存在脂肪氧化紊乱的证据。在婴儿早期诊断和治疗此类疾病可能会预防一些SIDS病例的发生。
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