Darier Disease - A Multi-organ Condition?
Darier Disease - A Multi-organ Condition?
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痢疾-多器官疾病？
DOI：
10.2340/00015555-3770
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发表时间：
2021-04-15
影响因子：
3.6
通讯作者：
中科院分区：
文献类型：
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作者：
Darier 病是一种严重、罕见的常染色体显性遗传性皮肤病，由内质网中编码肌内质网 Ca2+-ATP 酶亚型 2 的 ATP2A2 基因突变引起。由于肌内质网Ca2+-ATP酶亚型2在大多数组织中表达，并且细胞内钙稳态至关重要，因此可以想象，除皮肤外的其他器官也可能与Darier病有关。本综述重点关注达里尔病与其他器官功能障碍和疾病的关联，强调其共同的分子病理学。总之，Darier 病应被视为一种全身性疾病，需要全身性和疾病机制的靶向治疗。
Darier disease is a severe, rare autosomal dominant inherited skin condition caused by mutations in the ATP2A2 gene encoding sarcoendoplasmic reticulum Ca2+-ATPase isoform 2 in the endoplasmic reticulum. Since sarcoendoplasmic reticulum Ca2+-ATPase isoform 2 is expressed in most tissues, and intracellular calcium homeostasis is of fundamental importance, it is conceivable that other organs besides the skin may be involved in Darier disease. This review focusses on the association of Darier disease with other organ dysfunctions and diseases, emphasizing their common molecular pathology. In conclusion, Darier disease should be considered a systemic condition that requires systemic and disease mechanism targeted treatments.