A case of generalized arterial calcification of infancy and autosomal recessive hypophosphatemic rickets type 2 due to an ENPP1 mutation
- VernacularTitle:ENPP1基因变异致婴儿全身性动脉钙化症及常染色体隐性低磷性佝偻病2型一例
- Author:
Zhongwei XU
1
;
Zhe SU
1
;
Kexin JIN
1
;
Rongfei ZHENG
1
;
Yanhua JIAO
1
;
Lili PAN
1
;
Wei SU
1
;
Xiu ZHAO
1
Author Information
- Publication Type:Journal Article
- Keywords: ENPP1 gene; Generalized arterial calcification of infancy; Autosomal recessive hypophosphatemic rickets, type 2
- From: Chinese Journal of Endocrinology and Metabolism 2025;41(6):505-510
- CountryChina
- Language:Chinese
- Abstract: We report the clinical course from birth to adolescence of a patient carrying a compound heterozygous variation in the ectonucleotide pyrophosphatase/phosphodiesterase family member 1(ENPP1) gene. The patient was diagnosed with generalized arterial calcification of infancy shortly after birth, and subsequently with autosomal recessive hypophosphatemic rickets type 2 at the age of 11 years. Following effective blood pressure control, treatment with neutral phosphate, calcitriol, and vitamin D was initiated. During follow-up, no progression of vascular calcification was observed. Through this case report and a review of relevant literature, we aim to enhance clinicians′ understanding of this rare condition.
