Autosomal dominant osteopetrosis.
Genes/dominant
Osteopetrosis/epidemiology
Osteopetrosis/genetics
Osteopetrosis/history
Osteopetrosis/pathology
Osteopetrosis/therapy
Journal
Bone
ISSN: 1873-2763
Titre abrégé: Bone
Pays: United States
ID NLM: 8504048
Informations de publication
Date de publication:
05 2023
05 2023
Historique:
received:
29
11
2022
revised:
18
01
2023
accepted:
23
02
2023
pmc-release:
01
05
2024
pubmed:
3
3
2023
medline:
21
3
2023
entrez:
2
3
2023
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 36863500
pii: S8756-3282(23)00056-X
doi: 10.1016/j.bone.2023.116723
pmc: PMC10042314
mid: NIHMS1879291
pii:
doi:
Substances chimiques
Chloride Channels
0
CLCN7 protein, human
0
Types de publication
Review
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
116723Subventions
Organisme : NIAMS NIH HHS
ID : R01 AR077869
Pays : United States
Informations de copyright
Copyright © 2023 Elsevier Inc. All rights reserved.
Déclaration de conflit d'intérêts
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.
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