Síndrome hereditária hiperferritinemia-catarata: caso clínico.

IF 0.8 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Acta medica portuguesa Pub Date : 2025-03-14 DOI:10.20344/amp.22524
Carolina Fernandes, Cláudia Diogo, Cristiana Malhó, Filipa Alçada, Sónia Campos
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Abstract

Hereditary hyperferritinemia-cataract syndrome is an autosomal dominant genetic disorder that is characterized by high serum ferritin levels without iron overload and early-onset cataracts. The authors describe the case of a 26-year-old woman with hyperferritinemia (1153.3 ng/mL, reference range 11.0 - 306.8 ng/mL), with no other abnormalities in iron metabolism, associated with cataracts diagnosed at the age of three. The diagnosis was confirmed by genetic testing with detection of a heterozygous variant in the FTL gene (c.-168G>T). It is important to recognise hereditary hyperferritinemia-cataract syndrome to avoid unnecessary medical procedures.

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遗传性高铁蛋白血症-白内障综合征是一种常染色体显性遗传疾病,其特点是血清铁蛋白水平高,但无铁超载和早发性白内障。作者描述了一例 26 岁女性的病例,她患有高铁蛋白血症(1153.3 纳克/毫升,参考范围 11.0 - 306.8 纳克/毫升),没有其他铁代谢异常,三岁时被诊断出患有白内障。经基因检测确诊,发现 FTL 基因存在杂合变异(c.-168G>T)。认识遗传性高铁蛋白血症-白内障综合征以避免不必要的医疗程序非常重要。
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来源期刊
Acta medica portuguesa
Acta medica portuguesa MEDICINE, GENERAL & INTERNAL-
CiteScore
1.90
自引率
16.70%
发文量
256
审稿时长
6-12 weeks
期刊介绍: The aim of Acta Médica Portuguesa is to publish original research and review articles in biomedical areas of the highest standard, covering several domains of medical knowledge, with the purpose to help doctors improve medical care. In order to accomplish these aims, Acta Médica Portuguesa publishes original articles, review articles, case reports and editorials, among others, with a focus on clinical, scientific, social, political and economic factors affecting health. Acta Médica Portuguesa will be happy to consider manuscripts for publication from authors anywhere in the world.
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