Evaluation of Quality and Bone Microarchitecture Alterations in Osteopetrosis Patients: Assessed by HR-PQCT

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Osteopetrosis is a rare skeletal disease with high bone mass, categorized into autosomal dominant and autosomal recessive forms.
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This study evaluated bone microarchitecture in nine OPT patients using high-resolution peripheral quantitative computed tomography.
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Compared to healthy controls, OPT patients exhibited denser trabecular bone but weaker cortical bone with increased porosity.
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Distinct skeletal patterns and heterogeneity were observed among OPT patients, influenced by specific genetic mutations.
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The findings provide new insights into the bone alterations and structural diversity in patients with osteopetrosis.

The Journal Of Clinical Endocrinology & Metabolism

by Ruotong Zhou, Qianqian Pang, Xuan Qi, Yushuo Wu, Yue Chi, Lijia Cui, Ruizhi Jiajue, Xiang Li, Mei Li, Yan Jiang, Ou Wang, Xiaoping Xing, Li Zhang, Weibo Xia
February 11, 2025

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