Uitto Jouni, Li Qiaoli, van de Wetering Koen, Váradi András, Terry Sharon F
Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
J Invest Dermatol. 2017 Apr;137(4):790-795. doi: 10.1016/j.jid.2016.12.014.
Pseudoxanthoma elasticum is a prototype of heritable ectopic mineralization disorders, with phenotypic overlap with generalized arterial calcification of infancy and arterial calcification due to CD73 deficiency. Recent observations have suggested that the reduced inorganic pyrophosphate/phosphate ratio is the cause of soft connective tissue mineralization in these disorders. PXE International, a patient advocacy organization, supports research in part by sponsoring biennial research symposia on these disorders; the latest meeting was held in September 2016 at Thomas Jefferson University, Philadelphia. This report summarizes the progress in pseudoxanthoma elasticum and other ectopic mineralization disorders, as presented in the symposium, with focus on translational aspects of precision medicine toward improved diagnostics and treatment development for these currently intractable disorders.
弹性假黄瘤是遗传性异位矿化疾病的一个典型例子，其表型与婴儿期全身性动脉钙化以及因CD73缺乏导致的动脉钙化有重叠。最近的观察表明，无机焦磷酸盐/磷酸盐比例降低是这些疾病中软结缔组织矿化的原因。患者权益倡导组织弹性假黄瘤国际协会（PXE International）通过赞助关于这些疾病的两年一次的研究研讨会来部分支持研究；最近一次会议于2016年9月在费城的托马斯·杰斐逊大学举行。本报告总结了研讨会上所展示的弹性假黄瘤和其他异位矿化疾病的进展，重点关注精准医学在转化方面的进展，以改善这些目前难以治疗的疾病的诊断和治疗开发。
