成人中风和假性中风的遗传性代谢病因
[Hereditary metabolic causes of stroke and pseudo-stroke in adulthood].
作者信息
Nassogne M C, Touati G, Beyler C, Saudubray J M
机构信息
Service de maladies métaboliques, Fédération de pédiatrie, hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75743 Paris, France.
出版信息
Rev Med Interne. 2001 Dec;22 Suppl 3:338s-346s.
Metabolic diseases are a rare cause of strokes. However, prevention and treatment are available for some of them. This work describes some metabolic diseases generating strokes by disturbing directly vascular function (homocysteine disorders, Fabry disease, congenital defects of glycosylation) and those for which clinical presentation is similar to a stroke (urea cycle disorders, branched-chain organic acidurias, mitochondrial diseases).
代谢性疾病是中风的罕见病因。然而，其中一些疾病是可以预防和治疗的。这项工作描述了一些通过直接干扰血管功能引发中风的代谢性疾病（高同型半胱氨酸血症、法布里病、糖基化先天性缺陷）以及临床表现与中风相似的疾病（尿素循环障碍、支链有机酸尿症、线粒体疾病）。
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