Maternal serum alpha-fetoprotein levels peak at 19-21 weeks' gestation and subsequently decline in an NPHS1 sequence variant heterozygote; implications for prenatal diagnosis of congenital nephrosis of the Finnish type

摘要

Congenital nephrosis of the Finnish (CNF) type is a rare autosomal recessive disease caused by mutations in the NPHS1 gene that controls transcription of the protein nephrin. Classically, affected homozygotes have abnormal nephrin production that leads to severe neonatal proteinuria. Children with CNF have problems with malnutrition, are at increased risk for infection, and are at significant risk for end-stage renal failure. For affected individuals, proteinuria begins in utero and is manifested by significantly increased maternal serum alpha-fetoprotein levels (MS-AFP) throughout the second trimester of pregnancy.