Pyle's Disease: A human model of differentiated cortical and trabecular homeostasis
Pyle's Disease: A human model of differentiated cortical and trabecular homeostasis
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DOI：
10.1016/j.reuma.2018.01.002
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发表时间：
2020-01-01
影响因子：
1.5
通讯作者：
Ballina, Javier
中科院分区：
文献类型：
--
作者：
Arboleya, Luis;Queiro, Ruben;Ballina, Javier
派尔病（OMIN编号265900）是一种良性干骺端发育不良，以常染色体隐性方式遗传。到目前为止，已经描述了大约30个真实案例。自2016年以来，这一过程的原因已经被发现，当时发现了它与编码sFRP蛋白（一种已知的Wnt通路抑制剂）的基因突变的关系。我们报告的情况下，58岁的男子，诊断为派尔氏病的基础上，他的临床和影像学特征，其表型提出了一个差异控制的皮质骨和骨小梁的稳态。(C)2018 Elsevier Espafia，S.L.U.和Sociedad Espafiola de Rehabilologia y Colegio Mexicano de Rehabilologia。All rights reserved.
Pyle's disease (OMIN number 265900) is a metaphyseal dysplasia of benign course, inherited with an autosomal recessive pattern. Some 30 genuine cases have been described so far. The cause of this process has been known since 2016, when its relationship to mutations in the gene encoding the sFRP protein, a known inhibitor of the Wnt pathway, was discovered. We report the case of a 58-year-old man, diagnosed with Pyle's disease based on his clinical and radiographic characteristics, whose phenotype suggested a differential control of cortical and trabecular bone homeostasis. (C) 2018 Elsevier Espafia, S.L.U. and Sociedad Espafiola de Reumatologia y Colegio Mexicano de Reumatologia. All rights reserved.