Li Xiaxin, Alexander Sarah
Division of Pediatric Hematology/Oncology, Rainbow Babies and Children's Hospital, University Hospitals of Cleveland, Case Western Reserve University, Cleveland, Ohio, USA.
Pediatr Blood Cancer. 2009 Mar;52(3):403-5. doi: 10.1002/pbc.21816.
Hereditary persistence of alpha-fetoprotein (HPAFP) is a rare benign autosomal dominant disorder. Here we report a 7-year-old healthy female who was found to have elevated alpha-fetoprotein (AFP) of 55-88 ng/ml over a 2-year period. Subsequently, AFP was also determined to be elevated in another 4 out of 8 family members in three generations, consistent with an autosomal dominant inheritance pattern. Elevated AFP levels are usually related to pregnancy, congenital disorders, liver diseases, or specific malignancies. However, HPAFP should be considered in the differential diagnosis of children with unexplained elevation of AFP. This disorder can be easily confirmed by measuring AFP levels in family members or checking specific point mutations of AFP gene promoter.
甲胎蛋白遗传性持续存在（HPAFP）是一种罕见的常染色体显性良性疾病。在此，我们报告一名7岁健康女性，在两年时间里其甲胎蛋白（AFP）水平升高至55 - 88 ng/ml。随后，在三代家族中的另外8名家庭成员里，又有4人被检测出AFP升高，符合常染色体显性遗传模式。AFP水平升高通常与妊娠、先天性疾病、肝脏疾病或特定恶性肿瘤有关。然而，对于AFP不明原因升高的儿童进行鉴别诊断时应考虑HPAFP。通过检测家族成员的AFP水平或检查AFP基因启动子的特定点突变，这种疾病很容易得到确诊。
