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Osteoporos Int ; 28(11): 3277-3280, 2017 11.
Article in English | MEDLINE | ID: mdl-28866852

ABSTRACT

Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal recessive syndrome characterized by juvenile-onset osteoporosis and ocular abnormalities due to a low-density lipoprotein receptor-related protein 5 (LRP5) gene mutation. Treatment with bisphosphonates, particularly with pamidronate and risedronate, has been reported to be of some efficacy in this condition. We report on a patient with OPPG due to an LRP5 gene mutation, who showed an encouraging response after a 36-month period of neridronate therapy. We report a case of a patient treated with bisphosphonates. Bisphosphonates should be administered in OPPG patients as a first-line therapy during early childhood.


Subject(s)
Bone Density Conservation Agents/therapeutic use , Diphosphonates/therapeutic use , Osteogenesis Imperfecta/drug therapy , Adolescent , Humans , Low Density Lipoprotein Receptor-Related Protein-5/genetics , Male , Mutation , Osteogenesis Imperfecta/complications , Osteogenesis Imperfecta/diagnostic imaging , Osteogenesis Imperfecta/genetics , Osteoporotic Fractures/diagnostic imaging , Osteoporotic Fractures/etiology , Radiography , Spinal Fractures/diagnostic imaging , Spinal Fractures/etiology
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