Síndrome de osteoporosis-pseudoglioma: a propósito de un caso pediátrico de osteoporosis primaria
| Autor: | Hamilton Cassinelli, Miriam Aza-Carmona, Pablo Daniel Lapunzina Badía, Paula Scaglia, Debora Braslavsky, Marina Szlago, Julián Nevado Blanco, Karen E. Heath, Olivia Ruiz, Claudia Arberas, Ignacio Bergadá, Alejandra Carmona, Nora Sanguineti, Maria del Carmen Fernandez, Rodolfo Rey |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Pediatrics medicine.medical_specialty business.industry Osteoporosis Pseudoglioma Syndrome Osteoporosis Wnt signaling pathway 030209 endocrinology & metabolism LRP5 medicine.disease 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Pediatrics Perinatology and Child Health medicine Primary osteoporosis Multiple fractures business Loss function Rare disease |
| Zdroj: | Archivos Argentinos de Pediatria. 118 |
| ISSN: | 0325-0075 |
| DOI: | 10.5546/aap.2020.e300 |
| Popis: | Osteoporosis should be considered in children with severe chronic diseases or in association with some genetic diseases that bear an increased risk of bone fragility. Primary osteoporosis is an entity in which emerging aetiologies are being recognized. Its association with congenital retinal folds should guide the diagnosis to the Osteoporosis-Pseudoglioma syndrome (OMIM 259770), a rare disease (prevalence of 1/2 000 000), caused by the loss of function of the protein LRP5 (low-density lipoprotein receptor-related protein 5) resulting in the alteration of the Wnt/β-catenin signalling pathway. We report the case of a child with congenital retinal folds, progressive loss of vision and multiple fractures whose clinical, biochemical and genetic studies confirmed the diagnosis of primary osteoporosis due to a novel homozygous inactivating variant in LRP5. |
| Databáze: | OpenAIRE |
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