The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.
Departments of Medicine, Indiana University School of Medicine, Indianapolis, IN, USA; Departments of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA.
Bone. 2023 May;170:116723. doi: 10.1016/j.bone.2023.116723. Epub 2023 Feb 28.
Autosomal dominant osteopetrosis (ADO) is the most common form of osteopetrosis. ADO is characterized by generalized osteosclerosis along with characteristic radiographic features such as a "bone-in-bone" appearance of long bones and sclerosis of the superior and inferior vertebral body endplates. Generalized osteosclerosis in ADO typically results from abnormalities in osteoclast function, due most commonly to mutations in the chloride channel 7 (CLCN7) gene. A variety of debilitating complications can occur over time due to bone fragility, impingement of cranial nerves, encroachment of osteopetrotic bone in the marrow space, and poor bone vascularity. There is a wide spectrum of disease phenotype, even within the same family. Currently, there is no disease specific treatment for ADO, so clinical care focuses on monitoring for disease complications and symptomatic treatment. This review describes the history of ADO, the wide disease phenotype, and potential new therapies.
常染色体显性遗传性骨硬化症（ADO）是最常见的骨硬化症形式。ADO 的特征是全身性骨质硬化，同时具有特征性的影像学特征，如长骨的“骨内骨”外观和上下椎体终板的硬化。ADO 中的全身性骨质硬化通常是由于破骨细胞功能异常引起的，最常见的原因是氯离子通道 7（CLCN7）基因突变。随着时间的推移，由于骨骼脆弱、颅神经受压、骨髓腔中骨硬化的侵犯以及骨骼血供不良，可能会出现各种使人虚弱的并发症。即使在同一个家庭中，疾病表型也有很大的差异。目前，ADO 没有特定的疾病治疗方法，因此临床护理的重点是监测疾病并发症和对症治疗。这篇综述描述了 ADO 的历史、广泛的疾病表型以及潜在的新疗法。
