Department of Pathology and Orthopaedic Surgery, The Johns Hopkins Hospital and Johns Hopkins University School of Medicine, Baltimore, Maryland 21231, USA.
Semin Diagn Pathol. 2011 Feb;28(1):26-36. doi: 10.1053/j.semdp.2011.01.004.
Genetic factors play roles in many diseases. Often these factors are ill defined and unpredictable. Other diseases are caused by specific single gene mutations and are passed to offspring in Mendelian inheritance patterns. There are over 5000 documented Mendelian disorders; over 500 of these affect bones and joints. Some of these single gene disorders affect many tissues, and the skeletal system is one of many organ systems involved. The surgical pathologist must often diagnose these disorders. Important examples are neurofibromatosis, Gaucher's disease, and alkaptonuria. Other single gene disorders almost exclusively affect the skeleton. These disorders are the skeletal dysplasias and 372 have been documented. These disorders are classified using radiographic, clinical, and molecular data. The most common dysplasias are osteogenesis imperfecta, achondroplasia, and osteopetrosis. The surgical pathologist usually does not play a role in the diagnosis of skeletal dysplasias. However, histologic studies often elucidate the pathophysiologic basis of these diseases and proper collection of tissues is important for the evolving understanding of the molecular basis of these disorders.
遗传因素在许多疾病中起作用。这些因素通常定义不明确且不可预测。其他疾病是由特定的单基因突变引起的，并以孟德尔遗传模式遗传给后代。有超过 5000 种已记录的孟德尔疾病；其中超过 500 种影响骨骼和关节。这些单基因疾病中的一些影响许多组织，骨骼系统是涉及的众多器官系统之一。外科病理学家通常必须诊断这些疾病。神经纤维瘤病、戈谢病和尿黑酸尿症就是重要的例子。其他单基因疾病几乎完全影响骨骼。这些疾病是骨骼发育不良症，已有 372 种被记录。这些疾病使用放射学、临床和分子数据进行分类。最常见的发育不良症是成骨不全症、软骨发育不全症和石骨症。外科病理学家通常在骨骼发育不良症的诊断中不起作用。然而，组织学研究常常阐明这些疾病的病理生理基础，适当收集组织对于不断深入了解这些疾病的分子基础非常重要。
