ArticleJournal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research2024
Possible role of bone turnover markers in the diagnosis of adult hypophosphatasia.
Article in Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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8 citing papers in PubMed.
- Low alkaline phosphatase in adults: implications for the diagnosis of hypophosphatasia during evaluation for osteoporosis.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2026Article
- Identification of hypophosphatasia in adults with persistent hypophosphatasemia: clinical-genetic characterization and a validated diagnostic tool.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2026Article
- A proposed closed-loop framework for postoperative management of OVCF integrating biosensor-enabled monitoring and traditional Chinese medicine formulas: from dynamic assessment to precision intervention.Frontiers in pharmacology · 2026Review
- The Challenge of Hypophosphatasia Diagnosis in Patients with Fibromyalgia.Medical principles and practice : international journal of the Kuwait University, Health Science Centre · 2026Article
- Development and evaluation of a machine learning based risk prediction model for osteoporosis.Frontiers in molecular biosciences · 2026Article
- A novel dominant negative variant ofJBMR plus · 2025Article
- Hypophosphatasia: A case report.World journal of clinical cases · 2025Article
- Improvements in Bone Disorganization and Pseudo-Fracture Healing in Hypophosphatasia Following Asfotase Alfa Therapy May Be Detectable by the ALIGNOGRAM Before Changes in Bone Radiography or Scintigraphy.Case reports in endocrinology · 2025Article
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23 authors.
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Abstract
Hypophosphatasia (HPP) is a rare disorder of the bone metabolism, characterized by genetically determined low alkaline phosphatase (ALP) activity. Low ALP may also be observed in some common causes of bone fragility, such as in osteoporosis treated with antiresorptive drugs. This study aimed to verify whether differences in bone turnover markers (BTMs) could help differentiate adult patients with HPP from those with osteoporosis undergoing antiresorptive treatment. In this multicenter study, we enrolled 23 adult patients with a diagnosis of HPP and compared them with 46 osteoporotic subjects previously treated with zoledronic acid or denosumab. BTMs such as CTX, N-terminal propeptide of type I procollagen (P1NP), total ALP, and bone ALP (bALP) were measured, and ratios between BTMs were also calculated. Considering that the control group included only females, in the primary analysis we compared their characteristics with that of the 16 female patients with HPP. Both individual BTMs (CTX and P1NP) and 4 BTM ratios (ALP/P1NP, bALP/P1NP, ALP/CTX, and bALP/CTX) showed satisfactory discriminatory power, outperforming ALP alone. P1NP, in particular, had an area under the curve (AUC) of 0.962 with a cut-off of 32 μg/L, while as for the BTMs ratios, the ALP/P1NP ratio had an AUC of 0.964 with a cut-off of 1.114. Similar results were confirmed when including male HPP patients, when adjusting for age and sex, and finally when performing a sensitivity analysis only in patients with ALP less than or equal to 32 U/L (ie, the median of the distribution of the entire population). In cases of low ALP and bone fragility, BTM and their ratios could help distinguish HPP patients from osteoporotic individuals treated with antiresorptive drugs, aiding in accurate diagnosis and reducing the risk of inappropriate treatment.
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