甲胎蛋白的遗传持久性:来自孟加拉国初级保健中心的罕见实体

C. Podder, M. Amin, N. Chowdhury
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引用次数: 0

摘要

遗传性甲胎蛋白(hafp)是一种罕见的良性常染色体显性遗传病。在这里,我们报告一个15岁的男孩谁被发现有升高的甲胎蛋白在她的妇科乳房发育的常规评估。所有其他常见的升高甲胎蛋白的可能性均被排除。其后,他的两名家庭成员被发现有甲胎蛋白升高。一个是他的父亲,另一个是他的兄弟。升高的甲胎蛋白具有广泛的鉴别诊断,包括妊娠、生殖细胞肿瘤、肝细胞癌等。但在排除了其他可能性后,持续升高的甲胎蛋白引起了对hpaf的怀疑。检测其他家庭成员的AFP和特定的基因研究有助于诊断。孟加拉国J医学2023;第34卷,第2(1)增编:216-217
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Hereditary Persistence Of Alpha-fetoprotein: A Rare Entity From A Primary Care Center In Bangladesh
Hereditary persistence of alpha- fetoprotein (HFAFP) is a rare benign autosomal dominant disorder.Here we report a case of 15 years old boy who was found to have elevated alpha-fetoprotein during her routine evaluation for gynaecomastia. All other common possibilities for raised alpha-fetoprotein were excluded.Subsequently, 2 of his family members were found to have raised alpha-fetoprotein.One is his father and another one is his brother.Raised alpha-fetoprotein has a wide differential diagnosis including, pregnancy, germ cell tumors, hepatocellular carcinoma and others.But after exclusion of other possibilities, persisting elevated alphafetoprotein raises the suspicion for HPAFP.Testing other family members for AFP and specific genetic study aid in diagnosis. Bangladesh J Medicine 2023; Vol. 34, No. 2(1) Supplement: 216-217
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