Papa Giovanni XXIII Hospital, Bergamo, Italy.
CVPath Institute, Inc., Gaithersburg, MD, USA.
Cardiovasc Pathol. 2018 Sep-Oct;36:15-19. doi: 10.1016/j.carpath.2018.05.001. Epub 2018 May 18.
Generalized arterial calcification of infancy (GACI), or idiopathic infantile arterial calcification, is a rare autosomal-recessive disease recognized aAs an inherited disorder characterized by severe pathologic calcification of large- and medium-sized arteries accompanied by smooth muscle cell (SMC) hyperplasia leading to vascular obstruction [1]. The prognosis is extremely poor, with 85% of affected infants dying within the first 6 months of life. Loss-of-function mutations in the ectonucleotide pyrophosphatase phosphodiesterase 1 (ENPP1) gene is recognized as the main defect associated with GACI [1]. The underlying pathogenesis of osteogenic transition leading to calcification and severe stenosis in GACI, however, is poorly understood. Herein, we present a case of a GACI patient with cardiac complications who exhibited extensive vascular disease at autopsy.
婴儿全身性动脉钙化症（GACI），又称特发性婴儿性动脉钙化症，是一种罕见的常染色体隐性遗传病，被认为是一种遗传性疾病，其特征为大动脉和中等动脉严重病理性钙化，伴有平滑肌细胞（SMC）增生，导致血管阻塞[1]。预后极差，85%的受累婴儿在出生后 6 个月内死亡。核苷酸焦磷酸酶磷酸二酯酶 1（ENPP1）基因突变失活被认为是与 GACI 相关的主要缺陷[1]。然而，导致 GACI 中骨生成转化、钙化和严重狭窄的潜在发病机制尚不清楚。在此，我们报告一例伴有心脏并发症的 GACI 患者，尸检显示广泛的血管疾病。
