MON-LB72 Multicentric Carpotarsal Osteolysis Syndrome (MCTO) Has a Generalized High Turnover Bone Phenotype, High S RANKL and Responds to Denosumab

Background:MCTO is a rare disorder, caused by mutations in the MABF gene, a negative regulator of RANKL. Manifestations include carpal tarsal osteolysis and subsequent renal failure in some. Pathophysiology is poorly understood, and no effective treatment is available. Clinical case:A 5y old boy pre...

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Detalhes bibliográficos
Publicado no:J Endocr Soc
Main Authors: Regev, Ravit, Laxer, Ronal, Whitney-Mahoney, Kristi, Elia, Yesmino, Noone, Damien, Shammas, Amer, Reza, Vali, Sochett, Etienne B
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2020
Assuntos:
Bone and Mineral Metabolism
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7208332/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.2142
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