以佝偻病和高血压为表现的婴儿全身性动脉钙化症1例

A case of generalized arterial calcification of infancy with rickets and hypertension

为探讨婴儿全身性动脉钙化症(GACI)的临床表现、诊断及治疗,提高临床医师对该病的认识。回顾性分析2020年11月首都医科大学附属北京儿童医院确诊的1例GACI患儿的临床资料及其基因检测结果。患儿男,6岁7月龄,新生儿期合并心脏疾病,儿童期低磷性佝偻病,高血压,并有腹腔干、肾动脉等多处动脉狭窄,肾脏钙质沉积,全外显子检测发现患儿致病基因ENPP1基因复合杂合变异,最终诊断为婴儿全身性动脉钙化症。GACI是一种罕见常染色体隐性遗传病,需要多学科联合治疗。ENPP1基因为其致病基因,该病例扩大了ENPP1基因变异谱。

To explore the clinical manifestations,diagnosis and treatment of generalized arterial calcification of infancy(GACI),and to improve dictors'understanding of the disease,the clinical data and gene test results of a pediatric case of GACI diagnosed in Beijing Children's Hospital of Capital Medical University in November 2020 were analyzed retrospectively.A male patient of 6 years and 7months old was complicated with heart disease in the neonatal period,hypophosphatemic rickets in the childhood period,hypertension,multiple arterial stenosis such as celiac trunk and renal artery,and renal calcium deposition.The result of whole-exon test showed the ENPP1 compound heterozygous variation,and thus the patient was diagnosed with GACI.GACI is a rare autosomal recessive disease,which needs multidisciplinary treatment.ENPP1 gene is its pathogenic gene.This case expands the variation spectrum of ENPPI gene.