遗传性高铁蛋白血症伴缺铁性白内障综合征:病例报告

A. Abedi, Serhat Çelik, Zeynep Dilan Özçelik Yılmaz, Z. Güven, L. Kaynar
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摘要

遗传性高铁蛋白血症-白内障综合征(HHCS)是一种罕见的疾病,其特征是血清铁蛋白水平高、先天性双侧白内障和无组织铁超载。HHCS 是一种罕见疾病,其特征是血清铁蛋白水平高、先天性双侧白内障,且无组织铁超载。在本病例报告中,我们旨在介绍一名年轻女性患者,她本人及其家庭成员均有白内障病史。我们的患者面临缺铁性贫血和高铁蛋白血症的困境。与我们的患者一样,HHCS 患者在许多门诊都会遇到诊断困难。因此,我们准备了我们的病例,以提高人们的认识。
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Hereditary hyperferritinemia cataract syndrome with iron deficiency : a case report
Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare disease characterized by high serum ferritin levels, congenital bilateral cataracts, and the absence of tissue iron overload. HHCS is a rare disease characterized by high serum ferritin levels, congenital bilateral cataracts, and the absence of tissue iron overload. In this case report, we aimed to present a young female patient with a history of cataracts in herself and her family members. Our patient had the dilemma of iron deficiency anemia and hyperferritinemia. As in our patient, patients with HHCS apply to many outpatient clinics and have difficulty in diagnosis. For this reason, we prepared our case to raise awareness.
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