Autosomal Recessive Hypophosphatemic Rickets Type 2 Associated with a Novel ENPP1 Variant in a Taiwanese Girl
Journal
Journal of Clinical Research in Pediatric Endocrinology
Journal Volume
18
Journal Issue
Suppl 1
ISSN
1308-5727
1308-5735
Date Issued
2024-07-16
Author(s)
Abstract
Autosomal recessive hypophosphatemic rickets (ARHR) type 2 (ARHR2) is a rare form of hypophosphatemic rickets (HR) caused by a variant of the gene encoding ectonucleotide pyrophosphatase/phosphodiesterase 1 (). Our patient presented with a history of unsteady gait and progressively bowing legs that had commenced at the age of one year. Laboratory tests revealed elevated fibroblast growth factor 23 level, hypophosphatemia, and high urine phosphate level. Radiography revealed the typical features of rickets. Next-generation sequencing identified a previously reported c.783C>G (p.Tyr261Ter) and a novel c.1092-42A>G variant in . The patient was prescribed oral phosphates and active vitamin D and underwent guided growth of both distal femora and proximal tibiae commencing at the age of three years. No evidence of generalized arterial calcification was apparent during follow-up, and growth rate was satisfactory.
Subjects
Encoding ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1)
fibroblast growth factor 23 (FGF23)
hypophosphatemic rickets
Publisher
Galenos Yayinevi
Type
journal article