Document Detail


Congenital nephropathy and ventriculomegaly: a report of four cases.
MedLine Citation:
PMID:  12533813     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
M Jolly; S Goodburn; P Cox; P Loughna
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  23     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2003 Jan 
Date Detail:
Created Date:  2003-01-20     Completed Date:  2003-07-02     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  48-51     Citation Subset:  IM    
Copyright Information:
Copyright 2002 John Wiley & Sons, Ltd.
Affiliation:
Centre for Fetal Care, Queen Charlotte's & Chelsea Hospital, Du Cane Rd, London W12 0HS, UK.
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MeSH Terms
Descriptor/Qualifier:
Adult
Cerebral Ventricles / abnormalities*
Cysts / congenital,  pathology
Female
Fetal Diseases / pathology*
Genes, Recessive
Gestational Age
Humans
Hydrocephalus / complications,  embryology*,  ultrasonography*
Kidney Cortex / abnormalities
Kidney Glomerulus / abnormalities,  ultrastructure
Nephrotic Syndrome / complications,  congenital*,  pathology*
Pregnancy / blood
alpha-Fetoproteins / analysis
Chemical
Reg. No./Substance:
0/alpha-Fetoproteins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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