Department of General Pediatrics, Muenster University Children's Hospital, Germany.
Arterioscler Thromb Vasc Biol. 2021 Jan;41(1):35-47. doi: 10.1161/ATVBAHA.120.315577. Epub 2020 Nov 12.
Arterial calcification is a common phenomenon in the elderly, in patients with atherosclerosis or renal failure and in diabetes. However, when present in very young individuals, it is likely to be associated with an underlying hereditary disorder of arterial calcification. Here, we present an overview of the few monogenic disorders presenting with early-onset cardiovascular calcification. These disorders can be classified according to the function of the respective disease gene into (1) disorders caused by an altered purine and phosphate/pyrophosphate metabolism, (2) interferonopathies, and (3) Gaucher disease. The finding of arterial calcification in early life should alert the clinician and prompt further genetic work-up to define the underlying genetic defect, to establish the correct diagnosis, and to enable appropriate therapy.
动脉钙化是老年人、动脉粥样硬化或肾衰竭患者以及糖尿病患者的常见现象。然而，当在非常年轻的个体中出现时，它可能与潜在的遗传性动脉钙化疾病有关。在这里，我们概述了几种以早发性心血管钙化为特征的单基因疾病。这些疾病可以根据各自疾病基因的功能分为（1）由嘌呤和磷酸盐/焦磷酸盐代谢改变引起的疾病，（2）干扰素病，和（3）戈谢病。在早期生命中发现动脉钙化应引起临床医生的警惕，并促使进一步进行基因检测以确定潜在的遗传缺陷，确立正确的诊断，并进行适当的治疗。
