Frontiers in Cell and Developmental Biology ( IF 4.6 ) Pub Date : 2020-08-10 , DOI: 10.3389/fcell.2020.00854 Carole-Anne Faraji-Bellée , Axelle Cauliez , Benjamin Salmon , Olivier Fogel , Volha Zhukouskaya , Aurélie Benoit , Thorsten Schinke , Christian Roux , Agnès Linglart , Corinne Miceli-Richard , Catherine Chaussain , Karine Briot , Claire Bardet
X-linked hypophosphatemia (XLH) is characterized by rickets and osteomalacia, caused by inactivating mutations in the Phosphate-regulating endopeptidase homolog X-linked (PHEX) gene. With aging, adult patients develop paradoxical heterotopic calcifications of tendons and ligaments at their insertion sites (enthesophytes), and joint alterations. Understanding the progression of this structural damage that severely affects patients’ quality of life will help to improve the management of XLH. Here, we characterized the occurrence of enthesophytes and joint alterations through a 12 month
中文翻译:
X链接低磷血症的小鼠模型中的病态发展和关节结构损伤。
X连锁性低磷血症(XLH)的特征在于ets症和骨软化症,是由于磷酸盐调节内肽酶同源X连锁(PHEX)基因的失活引起的。随着年龄的增长,成年患者在其插入部位(食道植物)会出现腱和韧带的反常异位钙化,以及关节改变。了解这种严重影响患者生活质量的结构性损伤的进展将有助于改善XLH的管理。在这里,我们描述了在12个月内内生植物和关节改变的发生