Proteinuria and prenatal diagnosis of congenital nephrosis in fetal carriers of nephrin gene mutations.

doi:10.1016/S0140-6736(02)08504-5

Article

Proteinuria and prenatal diagnosis of congenital nephrosis in fetal carriers of nephrin gene mutations.

Lancet (London, England) - 4 May 2002

Patrakka Jaakko, Martin Paula, Salonen Riitta, Kestilä Marjo, Ruotsalainen Vesa, Männikkö Minna, Ryynänen Markku, Rapola Juhani, Holmberg Christer, Tryggvason Karl, Jalanko Hannu

Abstract excerpt

High concentrations of alpha-fetoprotein (AFP) are used for prenatal diagnosis of the Finnish type of congenital nephrotic syndrome (NPHS1). We investigated the validity of this test. We retrospectively established fetal NPHS1 genotype and assessed renal pathology in 21 pregnancies that had been terminated because of raised concentrations of AFP in amniotic fluid. 12 fetuses were homozygous and nine were...

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