Hromec A, Payer J, Killinger Z, Rybár I, Rovenský J
I Medizinische Klinik, Komenský-Universität Bratislava.
Dtsch Med Wochenschr. 1994 May 6;119(18):663-6. doi: 10.1055/s-2008-1058745.
Congenital atransferrinemia was first diagnosed at the age of 11 months in a now 27-year-old woman. Until she was aged 14 years treatment with human transferrin was irregular and, as it turned out, inadequate. But since then she has regularly received human transferrin (1 g monthly) and deferoxamine (500 mg twice weekly). Despite this she developed haemosiderosis affecting heart, liver, hypophysis, thyroid and the locomotor apparatus. This case report demonstrates the need of early diagnosis and treatment of congenital atransferrinemia to prevent the mentioned complications.
一名现年27岁的女性在11个月大时首次被诊断出患有先天性无转铁蛋白血症。在14岁之前，她接受人转铁蛋白治疗不规律，结果证明治疗并不充分。但从那时起，她定期接受人转铁蛋白（每月1克）和去铁胺（每周两次，每次500毫克）治疗。尽管如此，她还是患上了血色素沉着症，影响到心脏、肝脏、垂体、甲状腺和运动器官。本病例报告表明，需要对先天性无转铁蛋白血症进行早期诊断和治疗，以预防上述并发症。
