Alpha-fetoprotein deficiency Hereditary persistence of alpha-fetoprotein (HPAFP)
概要
Alpha-fetoprotein (AFP) is a major plasma protein produced by the yolk sac and the liver during the fetal. Congenital AFP deficiency is a rare phenomenon. A few cases were studied, and mutations in the AFP gene have been reported. Congenital AFP deficiency is considered as a benign trait. It was suggested that AFP is not essential for embryonic development but is required for female fertility. AFP gene transcription declines rapidly after birth, and is barely detectable in normal adults. However, AFP expression is reactivated under specific conditions, such as pregnancy, congenital disorders, liver diseases, or specific malignancies. AFP is also found to be elevated in several non-malignant conditions including hereditary persistence of AFP (HPAFP). HPAFP is a rare benign autosomal dominant disorder.
