[伴有SQSTM1和HNRNPA2B1基因突变的骨Paget病:附2例报告]。

Zhonghua nei ke za zhi Pub Date : 2023-08-01 DOI:10.3760/cma.j.cn112138-20220901-00648

X H Tao, T Xu, Q Lu, W D Yang, Y Q Hu, W Z Fu, H Yue, Z L Zhang

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[Paget's disease of bone with SQSTM1 and HNRNPA2B1 gene mutations: report of 2 cases].

畸形性骨炎是一种临床罕见的慢性进展性代谢性骨病，目前病因不明，其主要特征为骨吸收增加，随之代偿性新骨形成增加，临床表现为碱性磷酸酶升高、骨痛、骨骼畸形，易出现病理性骨折。本文报道2例罕见的畸形性骨炎分别由SQSTM1基因及HNRNPA2B1基因突变所致，分析2例患者的临床表现并复习相关文献，以期提高临床医生对该病的认识和诊治水平，并为后续开展分子诊断和基因筛查提供依据。.

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