Dursun Fatma, Atasoy Öztürk Tülay, Güven Serçin, Kırmızıbekmez Heves, Seymen Karabulut Gülcan, Kalın Sevinç, Sözeri Betül
Ümraniye Training and Research Hospital, Clinic of Pediatric Endocrinology, İstanbul, Turkey
Ümraniye Training and Research Hospital, Clinic of Radiology, İstanbul, Turkey
J Clin Res Pediatr Endocrinol. 2019 Sep 3;11(3):311-318. doi: 10.4274/jcrpe.galenos.2018.2018.0204. Epub 2018 Dec 11.
Generalized arterial calcification of infancy (GACI) is a rare autosomal-recessive disorder, characterized by calcification of the internal elastic lamina, fibrotic myointimal proliferation of muscular arteries and resultant arterial stenosis. Treatment with bisphosphonates has been proposed as a means of reducing arterial calcifications in GACI patients, although there is no formalized treatment approach. The case reported here was a patient with severe GACI diagnosed at three months of age who had no response to bisphosphonate treatment, but clinically improved after the initiation of magnesium and anti-phosphate (using calcium carbonate) treatments. In patients unresponsive to bisphosphonate, magnesium and anti-phosphate treatment may be attempted.
婴儿全身性动脉钙化（GACI）是一种罕见的常染色体隐性疾病，其特征为内弹性膜钙化、肌性动脉的纤维肌内膜增生以及由此导致的动脉狭窄。尽管尚无规范化的治疗方法，但已有人提出使用双膦酸盐进行治疗，以减少GACI患者的动脉钙化。此处报告的病例是一名3个月大时被诊断为重度GACI的患者，其对双膦酸盐治疗无反应，但在开始使用镁剂和抗磷酸盐（使用碳酸钙）治疗后临床症状有所改善。对于对双膦酸盐无反应的患者，可尝试使用镁剂和抗磷酸盐治疗。
