Suppr超能文献

[Progressive pseudorheumatoid chondrodysplasia. Case report].

作者信息

Pedini N, Putz P

机构信息

Département de Chirurgie Orthopédique, C.H.U. Brugmann, Site Victor Horta.

出版信息

Rev Med Brux. 2010 Nov-Dec;31(6):533-7.

Abstract

We present the case of a 17-year-old patient suffering from progressive pseudorheumatoid chondrodysplasia from whom 2 total hip prostheses and 2 total knee prostheses were necessary. We have to do with a recessive autosomal genetic disorder characterized by a lysis of the articular cartilage. This leads to an early degeneration of the joints. The clinic is mainly characterized by various complaints such as joint pain, stiffness, limitation or swelling causing a significant motor disability from childhood. The first joints affected are situated in the hands, later followed by the hips, elbows and knees. The X-rays show severe, multifocal articular degenerative modifications which are unusual for the age. The genetic mutation concerns the WISP 3 gene actively expressed by articular chondrocytes and located on chromosome 6. The differential diagnosis is done with a series of rheumatologic disorders in children and autoimmune diseases. We mainly retain the juvenile rheumatoid arthritis. A symptomatic medical treatment can be undertaken first. However, given the evolving nature of the pathology, a joint replacement surgery is needed once the child's growth is finished (second decade of life).

摘要

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验