Types A and B Niemann-Pick disease
Types A and B Niemann-Pick disease
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DOI：
10.1016/j.beem.2014.10.002
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发表时间：
2015-03-01
影响因子：
7.4
通讯作者：
Wasserstein, Melissa P.
中科院分区：
文献类型：
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作者：
Schuchman, Edward H.;Wasserstein, Melissa P.
两种不同的代谢异常包括在尼曼-匹克病（NPD）的名字下。第一种是由于酸性鞘磷脂酶（ASM）的活性不足。患有ASM缺陷的患者被分类为患有A型和B型尼曼-匹克病（NPD）。A型NPD患者在婴儿期表现出肝脾肿大和严重的中枢神经系统受累。它们很少能存活超过两岁。B型患者也有肝脾肿大和肺部病理改变，但通常没有中枢神经系统体征。B型患者的发病年龄和疾病进展速度差异很大，他们经常活到成年。最近，还鉴定了具有介于A型和B型NPD之间的表型的患者。这些个体代表了ASM基因（SMPD 1）中遗传不同突变引起的预期连续体。第二NPD类别中的患者被指定为具有C型和D型NPD。这些患者可能有轻度的肝脾肿大，但中枢神经系统受到严重影响。胆固醇的细胞内运输受损导致C型和D型NPD，并发现了两种不同的基因缺陷。本章仅讨论A型和B型NPD。(C)2014由Elsevier Ltd.出版
Two distinct metabolic abnormalities are encompassed under the eponym Niemann-Pick disease (NPD). The first is due to the deficient activity of the enzyme acid sphingomyelinase (ASM). Patients with ASM deficiency are classified as having types A and B Niemann-Pick disease (NPD). Type A NPD patients exhibit hepatosplenomegaly in infancy and profound central nervous system involvement. They rarely survive beyond two years of age. Type B patients also have hepatosplenomegaly and pathologic alterations of their lungs, but there are usually no central nervous system signs. The age of onset and rate of disease progression varies greatly among type B patients, and they frequently live into adulthood. Recently, patients with phenotypes intermediate between types A and B NPD also have been identified. These individuals represent the expected continuum caused by inheriting different mutations in the ASM gene (SMPD1). Patients in the second NPD category are designated as having types C and D NPD. These patients may have mild hepatosplenomegaly, but the central nervous system is profoundly affected. Impaired intracellular trafficking of cholesterol causes types C and D NPD, and two distinct gene defects have been found. In this chapter only types A and B NPD will be discussed. (C) 2014 Published by Elsevier Ltd.