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Review
. 2023 May:170:116723.
doi: 10.1016/j.bone.2023.116723. Epub 2023 Feb 28.

Autosomal dominant osteopetrosis

Lynda E Polgreen  1 , Erik A Imel  2 , Michael J Econs  3
Affiliations
Review

Autosomal dominant osteopetrosis

Lynda E Polgreen et al. Bone. 2023 May.

Abstract

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.

Keywords: Genes/dominant; Osteopetrosis/epidemiology; Osteopetrosis/genetics; Osteopetrosis/history; Osteopetrosis/pathology; Osteopetrosis/therapy.

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Conflict of interest statement

Declaration of competing interest Dr. Econs is a consultant for SiSaf, which is developing a therapy for ADO. Drs. Imel and Polgreen have no relevant conflicts to report.

Figures

Figure 1.
Figure 1.. Classic radiographic features of osteopetrosis:
A) bone within a bone appearance (“endobones”), B) sclerosis of the superior and inferior endplates (“sandwich vertebrae” or “rugger jersey spine”), and C) club shaped flaring of the metaphysis with abnormal cortical thinning resulting in an Erlenmeyer flask-like appearance.
See this image and copyright information in PMC

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