关键词: 婴儿泛发性动脉钙化, 小儿特发性动脉钙化, ENPP1, 基因

Abstract: Abstract: Objective To report a case of rare generalized artery calcification in infant (GACI) with the clinical characteristics and diagnostic experience, and to enhance the understanding of the disease accordingly. Methods A case of a neonate, boy, with GACI was analyzed in clinical manifestation, auxiliary examination and process of treatment. We have also reviewed the relevant literature. Results The affected infant hospitalized for twice, performing for the dyspnea frequently, heart failure, and shock. The clinical symptoms improved after treatment, accompanying with the syndrome of hypertension, and then for the further CT examination showed generalized calcifications of the cardiac and thoracoabdominal aorta wall, finally the patient was diagnosed GACI. Conclusion GACI is a rare genetic disorder consisting of diffuse arterial calcification and intimal proliferation. The disease typically results in progressive arterial stenosis and frequently leads to death from myocardial ischemia within 6 months of life. Affected infants are usually diagnosed before birth or in the neonatal period with symptoms of congestive heart failure. GACI can be diagnosis by the pathologic biopsy or imaging. Therapy with bisphosphonate has been used to treat the condition, but with inconsistent results. The disease is associated with mutations in ENPP1 gene in the majority of the cases.

Key words: Generalized arterial calcification in infancy, Idiopathic infantile arterial calcification, ENPP1 gene