常染色体隐性低血磷性佝偻病 2 型；ENPP1 基因突变。
Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene.
机构信息
Division of Pediatric Endocrinology, Van Yüzüncü Yıl University Faculty of Medicine Van, Turkey.
Department of Pediatrics and Department of Medical Genetic, Van Yüzüncü Yıl University Faculty of Medicine Van, Turkey.
出版信息
Turk J Pediatr. 2022;64(3):585-591. doi: 10.24953/turkjped.2021.829.
BACKGROUND
Hypophosphatemic rickets (HR) is a rare disease caused by several genetic mutations in factors that cause an increase in fibroblast growth factor 23 (FGF23), and renal phosphate transporters. ENPP1 (ectonucleotide pyrophosphatase / phosphodiesterase 1) mutations cause autosomal recessive inheritance hypophosphatemic rickets type 2.
CASE
In our study, we present a novel mutation in the ENPP1 gene detected in 4 siblings in a single family.
CONCLUSION
Our findings can be applied to further understand molecular pathogenesis and to establish a correlation between genotype and phenotype for HR.
背景
低磷血症性佝偻病（HR）是一种罕见疾病，由导致成纤维细胞生长因子 23（FGF23）和肾脏磷酸盐转运体增加的多种基因突变引起。ENPP1（核苷酸焦磷酸酶/磷酸二酯酶 1）突变导致常染色体隐性遗传低磷血症性佝偻病 2 型。
病例
在我们的研究中，我们在一个单一家庭的 4 个兄弟姐妹中发现了 ENPP1 基因的一个新突变。
结论
我们的发现可用于进一步了解分子发病机制，并建立 HR 的基因型与表型之间的相关性。
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