Clinical and biochemical response to neridronate treatment in a patient with osteoporosis-pseudoglioma syndrome (OPPG)
| Autor: | Y. D’Alfonso, A. Febbo, Patrizia D'Eufemia, A. Turchetti, L. Celli, Anna Zambrano, Pietro Persiani, Mauro Celli |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
Male
0301 basic medicine medicine.medical_specialty Pediatrics Adolescent Endocrinology Diabetes and Metabolism medicine.medical_treatment Osteoporosis 030209 endocrinology & metabolism Gene mutation 03 medical and health sciences 0302 clinical medicine Internal medicine Humans Medicine Osteoporosis pseudoglioma Bone Density Conservation Agents Diphosphonates business.industry Osteoporosis Pseudoglioma Syndrome LRP5 Osteogenesis Imperfecta Bisphosphonate medicine.disease Rheumatology bisphosphonate bone OPPG osteoporosis-pseudoglioma osteoporosis-pseudoglioma syndrome Radiography Low Density Lipoprotein Receptor-Related Protein-5 030104 developmental biology Endocrinology Mutation Spinal Fractures business Osteoporotic Fractures |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|