Extracutaneous ultrastructural alterations in pseudoxanthoma elasticum
Extracutaneous ultrastructural alterations in pseudoxanthoma elasticum
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DOI：
10.1080/01913120390248584
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发表时间：
2003-11-01
影响因子：
1
通讯作者：
Ronchetti, IP
中科院分区：
文献类型：
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作者：
Gheduzzi, D;Sammarco, R;Ronchetti, IP
弹性假黄瘤（PXE）是由ABCC 6基因突变引起的，ABCC 6基因编码膜转运蛋白MRP 6，其生理作用仍然未知。PXE的特征是皮肤、眼睛和心血管的改变，主要是由于弹性纤维的矿化。从2例PXE患者尸检中获得的大量组织的超微结构改变进行了分析和比较，以澄清参与PXE的各个器官，并确定负责临床表现的细胞类型。PXE的典型的超微结构改变存在于检查的所有器官中，主要包括一些弹性纤维的碎片化和矿化，胶原纤维的形状和大小的异常，以及，不太频繁，在细胞外空间的基质成分的聚集体的沉积。在受PXE临床表现影响的器官中，改变的严重程度更明显。有趣的是，静脉和动脉也同样受损，外膜和血管周围结缔组织是受影响最严重的区域。因此，PXE的改变是全身性的，影响所有软结缔组织，即使没有特定的临床表现。改变的定位表明，成纤维细胞和/或平滑肌细胞很可能参与疾病的发病机制。这些发现可能有助于当临床表现累及内脏器官时诊断PXE。
Pseudoxanthoma elasticum (PXE) is caused by mutations in the ABCC6 gene, encoding for the membrane transporter MRP6, whose physiological role is still unknown. PXE is characterized by skin, eye, and cardiovascular alterations mainly due to mineralization of elastic fibers. The ultrastructural alterations of a large number of tissues obtained at autopsy from 2 PXE patients were analyzed and compared to clarify the involvement of the various organs in PXE and to identify cell types responsible for clinical manifestations. Ultrastructural alterations typical of PXE were present in all organs examined and consisted mostly of fragmentation and mineralization of a number of elastic fibers, abnormalities of collagen fibril shape and size, and, less frequently, deposition of aggregates of matrix constituents in the extracellular space. The severity of alterations was more pronounced in the organs affected by the clinical manifestations of PXE. Interestingly, veins and arteries were similarly damaged, the adventitia and the perivascular connective tissue being the most affected areas. Therefore, alterations in PXE are systemic and affect all soft connective tissues, even in the absence of specific clinical manifestations. The localization of alterations suggests that fibroblasts and/or smooth muscle cells are very likely involved in the pathogenesis of the disorder. These findings may help in the diagnosis of PXE when clinical manifestations affect internal organs.