Székely G, Winkler V, Tarkovács G, Hosszúfalusi N, Vértes P
Ferencvárosi Egészségügyi Központ, Reumatológia, Budapest.
Orv Hetil. 1995 Feb 26;136(9):501-5.
The authors while describing their patients suffering from osteopetrosis disease, discuss its morphological aspects and possible patho-mechanism. The disease with osteosclerosis can be inherited recessively or dominantly. The recessively inherited type is less frequent and leads to early death due to secondary developing myelofibrosis. The dominantly inherited form is more benevolent, the patients are free of symptoms in half of cases. The patients described by the authors belong to the dominantly inherited type of the Albers-Schönberg disease. One of their patients suffers from rheumatoid arthritis and myelodisplastic syndrome apart from osteopetrosis. Having considered the publications authors have found data based on which the common source and connection of these three diseases can be rendered possible. Analyzing these data they draw attention to the possible pathogenic role of cytokines, first of all of the macrophag colony stimulating factor, moreover to the rheumatic manifestation of the paraneoplastic syndrome.
作者在描述患有骨硬化症的患者时，讨论了其形态学方面及可能的发病机制。骨硬化症可隐性或显性遗传。隐性遗传型较为少见，会因继发骨髓纤维化而导致早亡。显性遗传型则相对温和，半数病例患者无症状。作者所描述的患者属于显性遗传型的阿尔伯斯-尚伯格病。他们的一名患者除骨硬化症外，还患有类风湿关节炎和骨髓增生异常综合征。通过研究相关文献，作者找到了一些数据，据此有可能揭示这三种疾病的共同根源及联系。分析这些数据时，他们注意到细胞因子，尤其是巨噬细胞集落刺激因子可能的致病作用，此外还注意到副肿瘤综合征的风湿表现。
