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Congenital nephropathy and ventriculomegaly: a report of four cases
Author(s) -
Jolly M.,
Goodburn S.,
Cox P.,
Loughna P.
Publication year - 2003
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.447
Subject(s) - ventriculomegaly , nephrotic syndrome , medicine , pathology , congenital nephrotic syndrome , fetus , nephropathy , proteinuria , kidney , pregnancy , biology , endocrinology , genetics , diabetes mellitus
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.