常染色体隐性低血磷性佝偻病 2 型（ARHR2），系由于 ENPP1 缺乏所致。
Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) due to ENPP1-deficiency.
机构信息
Center for Rare Diseases Ruhr CeSER, Ruhr-University Bochum and Witten/Herdecke University, Germany; Department of Pediatrics, St.-Josef Hospital Bochum, Ruhr-University Bochum, Bochum, Germany.
Institute for Human Genetics, Universitätsmedizin Göttingen, Göttingen, Germany.
出版信息
Bone. 2021 Dec;153:116111. doi: 10.1016/j.bone.2021.116111. Epub 2021 Jul 9.
Awareness for hypophosphatemic rickets has increased in the last years, based on the availability of specific medical treatments. Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is a rare form of hypophosphatemic rickets, which is known to develop in survivors of generalized arterial calcification of infancy (GACI). Both disorders are based on a deficiency of ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) and present with a high clinical variability and a lack of a phenotype-genotype association. ARHR2 is characterized by phosphate wasting due to elevated fibroblast growth factor 23 (FGF23) levels and might represent a response of the organism to minimize ectopic calcification in individuals with ENPP1-deficiency. This report reviews the recent clinical and preclinical data on this ultra-rare disease in childhood.
近年来，随着特定医疗方法的应用，人们对低血磷性佝偻病的认识有所提高。常染色体隐性遗传性低血磷性佝偻病 2 型（ARHR2）是一种罕见的低血磷性佝偻病，已知其发生于婴儿全身性动脉钙化（GACI）幸存者中。这两种疾病均基于外核苷酸焦磷酸酶/磷酸二酯酶 1（ENPP1）的缺乏，并表现出高度的临床变异性和缺乏表型-基因型关联。ARHR2 的特征是由于成纤维细胞生长因子 23（FGF23）水平升高而导致磷酸盐丢失，并且可能代表机体对 ENPP1 缺乏个体中异位钙化的最小化的一种反应。本报告综述了儿童期这种超罕见疾病的最新临床和临床前数据。
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