Data Sheet 1_Natural history of hypophosphatasia in Chinese patients younger than 18 years: a single-center retrospective observational study.pdf

Purpose<p>To summarize the clinical features, natural history, and ALPL variant spectrum of Chinese children with hypophosphatasia (HPP), and to evaluate diagnostic features across clinical subgroups.</p>Methods<p>This single-center retrospective observational study included children diagnosed with hypophosphatasia at our hospital who had not received enzyme replacement therapy. Published Chinese pediatric hypophosphatasia cases were also reviewed and combined with the single-center cohort for descriptive analyses.</p>Results<p>Ninety-two children were included in the pooled cohort, comprising 23 patients in the single-center cohort and 69 cases identified from the literature.

Baseline features were broadly comparable between single-center cohort and the literature cohort (P > 0.05). In the pooled cohort, there were 34 severe HPP (including 6 perinatal hypophosphatasia and 28 infantile hypophosphatasia), 34 childhood HPP, and 24 odonto-HPP. Median ages at onset were 0.09, 1.13, and 1.45 years, and median diagnostic delays were 0.15, 3.00, and 1.44 years, respectively.