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The First Argentinian Family with Familial Amyloidosis of the Finnish Type

Familial amyloidosis of the Finnish type or Meretoja syndrome is a rare autosomic dominant inherited systemic condition. It was first described by Meretoja in Finland in 1969. It is a disease produced by a single mutation in the gene coding for gelsolin, which generates an abnormal protein that cumu...

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Detalles Bibliográficos
Autores principales: Lucero Saá, Francisco, Cremona, Federico Andrés, Mínguez, Natalia Ximena, Igarzabal, María Laura, Chiaradía, Pablo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5597921/
https://www.ncbi.nlm.nih.gov/pubmed/28924445
http://dx.doi.org/10.1159/000479729
Descripción
Sumario:Familial amyloidosis of the Finnish type or Meretoja syndrome is a rare autosomic dominant inherited systemic condition. It was first described by Meretoja in Finland in 1969. It is a disease produced by a single mutation in the gene coding for gelsolin, which generates an abnormal protein that cumulates in tissues and leads to various signs. Obtaining an early diagnosis can be challenging, as the first manifestations of the disease are ophthalmological and may only be seen with slit-lamp biomicroscopy. We present the first 3 cases diagnosed in Argentina, confirmed by genetic molecular testing.