尼曼-皮克病:七个相关问题

N. D. Vashakmadze, N. V. Zhurkova
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引用次数: 0

摘要

酸性鞘磷脂酶缺乏症是一种罕见的遗传性疾病,由于 SMPD1 基因突变导致酶缺乏。酶活性降低会导致鞘磷脂在溶酶体中积聚。这种疾病的临床表现多种多样:从伴有严重快速进展性神经变性的婴儿神经内脏型(尼曼-皮克病 A 型)到几乎不累及中枢神经系统的慢性内脏型(尼曼-皮克病 B 型)。还有一种中间表型:慢性神经内脏型(尼曼-皮克病 A/AB 型),包括内脏和神经系统两种表现。由于鞘磷脂在单核-巨噬细胞系统细胞以及其他细胞(如肝细胞)中积聚,该病的病程通常是进行性和多系统的。
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Niemann-Pick Disease: Seven Questions about it
Acid sphingomyelinase deficiency is a rare hereditary disease caused by enzyme deficiency due to mutations in the SMPD1 gene. Decreased enzyme activity leads to accumulation of sphingomyelin in lysosomes. This disease is characterized by wide diversity of clinical manifestations: from infantile neurovisceral form (Niemann-Pick disease type A) with severe rapidly progressive neurodegeneration to chronic visceral form (Niemann-Pick disease type B) with almost no central nervous system involvement. There is also intermediate phenotype: chronic neurovisceral form (Niemann-Pick disease type A/B) that includes manifestations two other forms, both visceral and neurological. The disease course is most commonly progressive and multi-system due to sphingomyelin accumulation in cells of the monocyte-macrophage system, as well as in other cells such as hepatocytes.
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