Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy.
Department of Medicine, Division of Bone and Mineral Diseases, Washington University School of Medicine, St. Louis, MO, USA; Department of Pathology and Immunology, Division of Anatomic and Molecular Pathology, Washington University School of Medicine, St. Louis, MO, USA.
Bone. 2019 Feb;119:71-81. doi: 10.1016/j.bone.2018.03.002. Epub 2018 Mar 6.
Bone and marrow are the two facets of the same organ, in which bone and hematopoietic cells coexist and interact. Marrow and skeletal tissue influence each-other and a variety of genetic disorders directly targets both of them, which may result in combined hematopoietic failure and skeletal malformations. Other conditions primarily affect one organ with secondary influences on the other. For instance, various forms of congenital anemias reduce bone mass and induce osteoporosis, while osteoclast failure in osteopetrosis prevents marrow development reducing medullary cavities and causing anemia and pancytopenia. Understanding the pathophysiology of these conditions may facilitate diagnosis and management, although many disorders are presently incurable. This article describes several congenital bone diseases and their relationship to hematopoietic tissue.
骨骼和骨髓是同一器官的两个方面，其中骨骼和造血细胞共存并相互作用。骨髓和骨骼组织相互影响，多种遗传疾病直接针对两者，可能导致联合性造血衰竭和骨骼畸形。其他疾病主要影响一个器官，对另一个器官产生次要影响。例如，各种形式的先天性贫血会减少骨量并导致骨质疏松症，而骨质增生症中的破骨细胞功能障碍会阻止骨髓发育，减少骨髓腔，并导致贫血和全血细胞减少症。了解这些疾病的病理生理学可能有助于诊断和治疗，尽管许多疾病目前是无法治愈的。本文描述了几种先天性骨骼疾病及其与造血组织的关系。
