Congenital nephropathy and ventriculomegaly: a report of four cases |
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Authors: | M Jolly S Goodburn P Cox P Loughna |
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Institution: | 1. Centre for Fetal Care, Queen Charlotte's & Chelsea Hospital, Du Cane Rd, London W12 0HS, UK;2. Department of Neonatal Screening, Box 247, Addenbrooke's NHS Trust, Hills Road, Cambridge, CB2 2QQ, UK;3. Perinatal Pathology Section, Histopathology Department, Imperial College School of Medicine, Hammersmith Hospital, Du Cane Road, London W12 0HS, UK |
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Abstract: | Congenital nephrotic syndrome with ventriculomegaly and a normal karyotype is a rare association. We report four cases, three of which were conceived consecutively by one couple. All the cases were associated with elevated maternal serum alpha-fetoprotein. Renal histology in one fetus demonstrated colloid filled cysts distributed in the corticomedullary area. Transmission electron microscopy of the glomeruli showed normally developed foot processes and confirmatory genetic studies excluded Finnish congenital nephrotic syndrome. It is probable that congenital nephropathy in conjunction with ventriculomegaly is the result of an autosomal recessive syndrome. Copyright © 2002 John Wiley & Sons, Ltd. |
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Keywords: | congenital nephropathy ventriculomegaly alpha-fetoprotein |
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