Angiokeratoma Corporis Diffusum With Glycopeptiduria due to Deficient Lysosomal a-N-Acetylgalactosaminidase Activity: Clinical, Morphologic, and Biochemical Studies
Angiokeratoma Corporis Diffusum With Glycopeptiduria due to Deficient Lysosomal a-N-Acetylgalactosaminidase Activity: Clinical, Morphologic, and Biochemical Studies
复制标题
弥漫性体血管角化瘤因溶酶体α-N-乙酰半乳糖胺酶活性缺陷而伴有糖肽尿：临床、形态学和生化研究
DOI：
--
复制
发表时间：
1993
期刊：
影响因子：
--
通讯作者：
R. Desnick
中科院分区：
文献类型：
--
作者：
T. Kanzaki;M. Yokota;F. Irie;Y. Hirabayashi;Anne M. Wang;R. Desnick
·背景。弥漫性躯体血管角化瘤是某些溶酶体贮积病的一个显著皮肤特征。在这篇文章中，临床，形态学和生化特征的一个新的，成人发病的溶酶体疾病与血管角化瘤进行了描述。意见。一名46岁的日本女性患有弥漫性血管角化瘤、轻度智力障碍和周围神经轴索变性。血管角化瘤在她28岁时首次出现在她的下躯干，然后它变得弥漫性分布。组织病理学上，毛细血管扩张有局部角化过度;超微结构检查显示，所有真皮细胞，特别是血管和淋巴管内皮细胞和外分泌汗腺细胞中存在明显的胞质空泡。溶酶体的病理特征和尿中O-连接糖肽排泄的增加提示了一种特异性糖苷酶的缺乏。酶分析显示低于2%的正常α-N-乙酰氨基半乳糖酶活性和免疫检测酶蛋白的缺乏。她的两个未受影响的孩子的α-N-乙酰氨基半乳糖酶水平为正常的一半，与酶缺陷的常染色体隐性遗传一致。结论。由于这种酶缺乏症先前在婴儿型遗传性神经轴索营养不良患者中被鉴定，因此本文所述的46岁先证者中酶病的发生代表了α-N-乙酰氨基半乳糖苷酶缺乏症的成人发病形式。这一新发现的实体在弥漫性躯体血管角化瘤的鉴别诊断中应予以考虑。（Arch Dermatol. 1993;129：460-465）
• Background.— Angiokeratoma corporis diffusum is a prominent cutaneous feature of certain lysosomal storage diseases. In this article, the clinical, morphologic, and biochemical features of a new, adult-onset lysosomal disease with angiokeratoma are described. Observations.— A 46-year-old Japanese woman had diffuse angiokeratoma, mild intellectual impairment, and peripheral neuroaxonal degeneration. The angiokeratoma first appeared on her lower torso when she was 28 years old, and then it became diffusely distributed. Histopathologically, the telangiectasia had localized hyperkeratosis; ultrastructural examination revealed clear cytoplasmic vacuoles in all dermal cells, particularly in vascular and lymphatic endothelial cells and in eccrine sweat gland cells. The lysosomal pathologic features and increased urinary excretion of O-linked glycopeptides suggested the deficiency of a specific glycosidase. Enzyme analyses revealed less than 2% of normal α-N-acetylgalactosaminidase activity and the absence of immunodetectable enzyme protein. Her two unaffected children had half-normal α-N-acetylgalactosaminidase levels, consistent with the autosomal recessive inheritance of the enzymatic defect. Conclusions.— Since this enzyme deficiency was previously identified in patients with an infantile form of inherited neuroaxonal dystrophy, the occurrence of the enzymopathy in the 46-year-old proband described herein represents an adult-onset form of α-N-acetylgalactosaminidase deficiency. This newly recognized entity should be considered in the differential diagnosis of angiokeratoma corporis diffusum. ( Arch Dermatol. 1993;129:460-465)
一种快速检测 α-N-乙酰氨基半乳糖苷酶缺乏症和其他溶酶体贮积病中尿糖肽的方法。
DOI：
10.1016/0009-8981(90)90282-w
发表时间：
1990
期刊：
Clinica chimica acta; international journal of clinical chemistry
影响因子：
--
作者：
Schindler,D;Kanzaki,T;Desnick,RJ
通讯作者：
Desnick,RJ
溶酶体α-N-乙酰半乳糖胺酶缺乏症，弥漫性体质血管角化瘤伴糖肽尿的酶缺陷。
DOI：
10.1172/jci115357
发表时间：
1991
期刊：
The Journal of clinical investigation
影响因子：
--
作者：
Kanzaki,T;Wang,AM;Desnick,RJ
通讯作者：
Desnick,RJ
人 α-N-乙酰氨基半乳糖苷酶分子克隆、核苷酸序列和全长 cDNA 的表达。
DOI：
--
发表时间：
1990
期刊：
The Journal of biological chemistry
影响因子：
--
作者：
Wang,AM;Bishop,DF;Desnick,RJ
通讯作者：
Desnick,RJ