Abstract:
: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. :La osteoporosis es un trastorno para tener en cuenta en niños con patologías crónicas graves o con algunas enfermedades genéticas que predisponen al incremento de la fragilidad ósea. La osteoporosis primaria es una entidad con etiologías emergentes y puede ocurrir en forma sindrómica. La asociación con pliegues retinianos congénitos debe orientar al diagnóstico de osteoporosis-pseudoglioma (OMIM 259770), síndrome poco frecuente (prevalencia de 1/2 000 000), que se origina por la pérdida de función de la proteína LRP5 (low-density lipoprotein receptor-related protein 5) y compromete la vía de señalización de Wnt/β-catenina. Se presenta el caso de un niño con pliegues retinianos congénitos, ceguera progresiva y múltiples fracturas cuyo estudio clínico, bioquímico y genético confirmó el diagnóstico de osteoporosis primaria debido a una nueva variante inactivante en el gen LRP5 en homocigosis.
journal_name
Arch Argent Pediatrjournal_title
Archivos argentinos de pediatriaauthors
Braslavsky D,Scaglia P,Sanguineti N,Aza-Carmona M,Nevado Blanco J,Lapunzina Badia PD,Fernández MDC,Ruiz O,Carmona A,Szlago M,Arberas C,Cassinelli H,Heath K,Rey R,Bergadá Idoi
10.5546/aap.2020.e300subject
Has Abstractpub_date
2020-06-01 00:00:00pages
e300-e304issue
3eissn
0325-0075issn
1668-3501journal_volume
118pub_type
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journal_title:Archivos argentinos de pediatria
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journal_title:Archivos argentinos de pediatria
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journal_title:Archivos argentinos de pediatria
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journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
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pub_type: 杂志文章
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journal_title:Archivos argentinos de pediatria
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journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2017.195
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doi:10.5546/aap.2018.eng.279
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journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
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journal_title:Archivos argentinos de pediatria
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journal_title:Archivos argentinos de pediatria
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