Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes.
Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes.
复制标题
新生儿肾上腺脑白质营养不良：新病例、生化研究以及与齐薇格和相关过氧化物酶体多发性营养不良综合征的鉴别。
DOI：
10.1002/ajmg.1320230404
复制
发表时间：
1986
期刊：
影响因子：
--
通讯作者：
Moser,HW
中科院分区：
文献类型：
--
作者：
Kelley,RI;Datta,NS;Dobyns,WB;Hajra,AK;Moser,AB;Noetzel,MJ;Zackai,EH;Moser,HW
8例尸检证实或疑似新生儿肾上腺脑白质营养不良（NALD）的新病例，以及关于极长链脂肪酸（VLCFA）和缩醛磷脂的新生化数据，以及对所有先前发表病例的回顾。详细分析了这种新认识的肾上腺脑白质营养不良形式的临床生化和组织病理学异常特征，并与类似疾病的主要特征进行了比较，Zellweger肝肾综合征（ZS）。使用严格的病理标准诊断NALD，我们发现，尽管有许多临床上的相似性，NALD和ZS是可区分的基础上，组织学和过氧化物酶体的生化。NALD患者表现出肾上腺萎缩、异常载脂巨噬细胞的全身浸润和饱和VLCFA升高。相比之下，患有ZS的患者具有软骨发育不良、肾脏肾小球囊病、中枢神经系统髓鞘形成障碍以及不饱和和饱和VLCFA升高，但他们没有肾上腺萎缩。我们的结论是NALD和ZS可能代表至少两种不同的遗传缺陷。
Eight new cases of autopsy‐confirmed or suspected neonatal adrenoleukodystrophy (NALD) are presented together with new biochemical data on very‐longchain fatty acids (VLCFA) and plasmalogens and a review of all previously published cases. The clinica biochemical, and histopathologic abnormalities characteristic of this newly recognized form of adrenoleukodystrophy are analyzed in detail and compared to the principal characteristics of the similar disorder, the cerebrohepatorenal syndrome of Zellweger (ZS). Using strict pathologic criteria for the diagnosis of NALD, we find that, despite many clinical resemblances, NALD and the ZS are distinguishable on the basis of histology and peroxisomal biochemistry. Patients with NALD demonstrate adrenal atrophy, systemic infiltration by abnormal lipid‐laden macrophages, and elevations of saturated VLCFA. In contrast, patients with ZS have chondrodysplasia, glomerulocystic disease of the kidney, central nervous system dysmyelination, and elevations of unsaturated as well as saturated VLCFA, but they lack adrenal atrophy. We conclude that NALD and the ZS probably represent at least two different genetic defects.