Fibrodisplasia osificante progresiva plus por una variante patogénica del gen ACVR1: caso clínico

Simple item page
dc.catalogadoryvc
dc.contributor.authorContreras Olea, Oscar
dc.contributor.authorGoecke Hochberger, C.
dc.contributor.authorRumié Carmi, Hana Karime
dc.contributor.authorLobo Avilés, R.
dc.contributor.authorMellado Sagredo, Cecilia Ximena
dc.contributor.authorAvila Smirnow, Daniela
dc.date.accessioned2024-01-19T14:06:44Z
dc.date.available2024-01-19T14:06:44Z
dc.date.issued2019
dc.description.abstractFibrodysplasia ossificans progressiva (FOP) or myositis ossificans, is a genetic disease, with a prevalence of 1 in 2.000.000. It is caused by pathogenic variants in ACVR1 gene and characterized by soft tissue heterotopic ossification, starting in the second decade of life. It is associated to early mortality caused by respiratory complications. It evolves in flare-ups, triggered by soft tissue injuries; therapy is symptomatic, using analgesia, steroids and diphosphonates. We report a 12-year-old female with left renal agenesis, hallux valgus and intellectual disability, presenting with a six months history of thoracic kyphosis, tender nodules in the thorax, and rigidity of right elbow and left knee. Clinical examination revealed dysmorphic facial features. A magnetic resonance showed heterotopic ossification nodules, which was confirmed with spinal radiography. These findings prompted the diagnosis of FOP. Pain treatment was started, and prednisone was used during flare-ups. The ACVR1 gene was analyzed and a pathogenic variant, p. Arg206His, was found, confirming the diagnosis of FOP.
dc.fechaingreso.objetodigital2024-04-10
dc.fuente.origenORCID-ene24
dc.identifier.doi10.4067/S0034-98872019000300384
dc.identifier.urihttps://doi.org/10.4067/S0034-98872019000300384
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/80625
dc.information.autorucEscuela de medicina ; Olea Contreras, Oscar ; S/I ; 71691
dc.information.autorucEscuela de medicina ; Rumié Carmi, Hana Karime ; S/I ; 74631
dc.information.autorucEscuela de medicina; Mellado Sagredo, Cecilia Ximena ; 0000-0002-6032-4651; 1002671
dc.information.autorucEscuela de medicina ; Avila Smirnow, Daniela ; 0000-0003-3962-6302 ; 9292
dc.issue.numero3
dc.language.isoes
dc.nota.accesoContenido completo
dc.revistaRevista Médica de Chile
dc.rightsacceso abierto
dc.subjectLeukomalacia
dc.subjectPeriventricular
dc.subjectMyositis Ossificans
dc.subject.ddc610
dc.subject.deweyMedicina y saludes_ES
dc.titleFibrodisplasia osificante progresiva plus por una variante patogénica del gen ACVR1: caso clínico
dc.title.alternativeFibrodisplasia osificante progresiva plus por una variante patogénica del gen ACVR1: caso clínico
dc.typeartículo
dc.volumen147
sipa.codpersvinculados71691
sipa.codpersvinculados74631
sipa.codpersvinculados1002671
sipa.codpersvinculados9292
sipa.trazabilidadORCID;2024-01-08
Files
Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
TEXTO COMPLETO_Fibrodisplasia osificante progresiva.pdf
Size:
1.81 MB
Format:
Adobe Portable Document Format
Description:
Download
Collections
Artículos de revistas