中国实用儿科杂志

中国实用儿科杂志 ›› 2023, Vol. 38 ›› Issue (9): 717-720.DOI: 10.19538/j.ek2023090614

• 病例报告 • 上一篇    

以佝偻病和高血压为表现的婴儿全身性动脉钙化症1例

  

  1. 国家儿童医学中心  首都医科大学附属北京儿童医院内分泌遗传代谢科，北京  100045
  • 出版日期:2023-09-06 发布日期:2023-09-26
  • 通讯作者: 曹冰燕，电子信箱：caoby1982@163.com

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

  1. Department of Endocrinology，Genetics and Metabolism，Beijing Children's Hospital，Capital Medical University，National Children's Medical Center，Beijing  100045，China
  • Online:2023-09-06 Published:2023-09-26

摘要： 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。

关键词: 婴儿全身性动脉钙化症, ENPP1基因变异

Abstract: 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 ENPP1 gene.

Key words: generalized arterial calcification of infancy, ENPP1 gene mutation