Greenberg F, Rose E, Alpert E
Department of Pediatrics, Baylor College of Medicine, Houston, Texas.
Gastroenterology. 1990 Apr;98(4):1083-5. doi: 10.1016/0016-5085(90)90037-2.
Persistently elevated alpha-fetoprotein levels were found in a 43-yr-old man in the absence of any specific pathology. Elevated serum alpha-fetoprotein levels were subsequently found in three first-degree relatives, two siblings, and one daughter. This represents the third documented family with hereditary persistence of alpha-fetoprotein. The pedigree is consistent with an autosomal dominant inheritance. Such elevated alpha-fetoprotein levels may be difficult to interpret in patients being screened for malignancy or in maternal serum alpha-fetoprotein screening programs. This rare genetic condition seems benign, with no discernable disease or functional abnormality noted in follow-up over a 6-mo period.
在一名43岁男性中发现甲胎蛋白水平持续升高，且无任何特定病理学表现。随后在其三个一级亲属（两个兄弟姐妹和一个女儿）中也发现血清甲胎蛋白水平升高。这是有记录的第三个遗传性甲胎蛋白持续升高的家族。该谱系符合常染色体显性遗传。在对恶性肿瘤进行筛查的患者或母体血清甲胎蛋白筛查项目中，如此升高的甲胎蛋白水平可能难以解读。这种罕见的遗传状况似乎是良性的，在6个月的随访中未发现明显疾病或功能异常。
