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首个患有芬兰型家族性淀粉样变性的阿根廷家族。

The First Argentinian Family with Familial Amyloidosis of the Finnish Type.

作者信息

Lucero Saá Francisco, Cremona Federico Andrés, Mínguez Natalia Ximena, Igarzabal María Laura, Chiaradía Pablo

机构信息

Department of Ophthalmology, Hospital de Clínicas José de San Martin, Universidad de Buenos Aires (UBA), Buenos Aires, Argentina.

Centro de Educación Médica e Investigaciones Clínicas Norberto Quirno (CEMIC), Buenos Aires, Argentina.

出版信息

Case Rep Ophthalmol. 2017 Aug 31;8(2):446-451. doi: 10.1159/000479729. eCollection 2017 May-Aug.

Abstract

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.

摘要

芬兰型家族性淀粉样变性或梅雷托亚综合征是一种罕见的常染色体显性遗传全身性疾病。它于1969年由梅雷托亚在芬兰首次描述。这是一种由凝溶胶蛋白编码基因突变引起的疾病,该突变产生一种异常蛋白质,其在组织中累积并导致各种症状。由于该疾病的首发表现为眼部症状,且可能仅在裂隙灯生物显微镜检查下才能看到,因此早期诊断具有挑战性。我们报告了在阿根廷确诊的首例3例病例,并通过基因分子检测得以证实。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/67fd/5597921/973e8ef403d5/cop-0008-0446-g01.jpg

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