Acid sphingomyelinase deficiency: Prevalence and characterization of an intermediate phenotype of NIEMANN-PICK disease
Acid sphingomyelinase deficiency: Prevalence and characterization of an intermediate phenotype of NIEMANN-PICK disease
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DOI：
10.1016/j.jpeds.2006.06.034
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发表时间：
2006-10-01
影响因子：
5.1
通讯作者：
McGovern, Margaret M.
中科院分区：
文献类型：
--
作者：
Wasserstein, Melissa P.;Aron, Alan;McGovern, Margaret M.
目的了解尼曼-皮克病（NPD） NPD- b患者神经系统疾病的患病率。研究设计64例NPD-B患者进行了详细的神经和眼科评估。将神经系统异常与基因型进行比较。结果64例患者中有19例（30%）存在神经系统异常，其中14例（22%）为轻度非进行性神经系统异常，5例（8%）为全局性神经系统异常。在这5例患者中，神经系统困难发生在2 - 7岁之间，并与周围神经病变、视网膜异常和Q292K突变相关。至少有一个Delta R608拷贝的患者没有神经系统受累。结论NPD-B患者多数无神经系统异常。在神经系统异常的患者中，症状可以是轻微的、静止的，也可以是严重的、进行性的。后一种表型遵循与经典NPD-A不同的过程，并与Q292K突变和特征性视网膜发现相关。因此，与其他溶酶体贮积性疾病类似，酸性鞘磷脂酶缺乏症存在广泛的神经系统异常，这使得目前的分类方案不准确。
Objective To document the prevalence of neurologic disease in Niemann-Pick disease (NPD) NPD-B.Study design Sixty-four patients with NPD-B had detailed neurologic and ophthalmologic evaluations. The presence of neurologic abnormalities was compared with genotype.Results Nineteen of 64 patients (30%) had neurologic abnormalities, which were minor and nonprogressive in 14 (22%), and global and progressive in 5 (8%). In these five patients, the onset of neurologic difficulties occurred between 2 and 7 years of age and was associated with peripheral neuropathy, retinal abnormalities, and the Q292K mutation. No patients with at least one copy of Delta R608 had neurologic involvement.Conclusions The majority of patients with NPD-B have no neurologic abnormalities. In patients with neurologic abnormalities, the findings can be minor and static or severe and progressive. The latter phenotype follows a course distinct from that of classic NPD-A and is associated with the Q292K mutation and characteristic retinal findings. Thus, similar to other lysosomal storage disorders, there is a broad spectrum of neurologic abnormalities in acid sphingomyelinase deficiency, which makes the current classification scheme inaccurate.