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

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

doi:10.3760/cma.j.cn112138-20220901-00648

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

Zhonghua Nei Ke Za Zhi. 2023 Aug 1;62(8):1021-1025. doi: 10.3760/cma.j.cn112138-20220901-00648.

[Article in Chinese]

Authors

X H Tao¹, T Xu¹, Q Lu¹, W D Yang¹, Y Q Hu¹, W Z Fu¹, H Yue¹, Z L Zhang¹

Affiliation

¹ Department of Osteoporosis and Bone Diseases, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai Clinical Research Center of Bone Disease, Shanghai 200233, China.

PMID: 37528043
DOI: 10.3760/cma.j.cn112138-20220901-00648

Abstract

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。.

Publication types

Case Reports

MeSH terms

Bone and Bones
Humans
Mutation
Osteitis Deformans* / genetics
Proteins / genetics
Sequestosome-1 Protein / genetics

Substances

Sequestosome-1 Protein
Proteins
SQSTM1 protein, human