Pseudoxanthoma elasticum (PXE) is an autosomal-recessively inherited multisystem disease. Mutations in the -gene are causative, coding for a transmembrane transporter mainly expressed in hepatocytes, which promotes the efflux of adenosine triphosphate (ATP). This results in low levels of plasma inorganic pyrophosphate (PPi), a critical anti-mineralization factor. The clinical phenotype of PXE is characterized by the effects of elastic fiber calcification in the skin, the cardiovascular system, and the eyes.

中文翻译：

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弹性假黄瘤 – 遗传学、病理生理学和临床表现


弹性假黄瘤（PXE）是一种常染色体隐性遗传的多系统疾病。基因突变是致病原因，编码主要在肝细胞中表达的跨膜转运蛋白，促进三磷酸腺苷（ATP）的外流。这导致血浆无机焦磷酸盐 (PPi) 水平较低，PPi 是一种关键的抗矿化因子。 PXE 的临床表型以皮肤、心血管系统和眼睛中弹性纤维钙化的影响为特征。