Abstract |
Congenital nephrosis is an autosomal recessive disorder requiring neonatal renal transplant for survival. The postnatal diagnosis rests upon the electron microscopic evaluation of the epithelial foot processes and basal membrane of the glomeruli. The prenatal diagnosis can be suspected in the presence of a positive family history with an amniotic fluid (AF) alpha-fetoprotein level greater than 5 standard deviations (SD) above the population mean accompanied by a negative AF acetylcholinesterase, absent haemoglobin F, and an unremarkable fetal sonographic examination. We reviewed our series of seven cases of congenital nephrosis fulfilling the above criteria; four cases had negative family histories, and in two cases the diagnosis of congenital nephrosis was further supported by the presence of elevated AF albumin concentrations. We conclude that (1) the prenatal diagnosis of congenital nephrosis is feasible in a low-risk population, and (2) an elevated AF albumin concentration may represent an additional marker for the diagnosis of congenital nephrosis, even though false-negative results have been reported.
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Authors | A Ghidini, M Alvarez, G Silverberg, E Ainbender, C J Lockwood |
Journal | Prenatal diagnosis
(Prenat Diagn)
Vol. 14
Issue 7
Pg. 599-602
(Jul 1994)
ISSN: 0197-3851 [Print] England |
PMID | 7526365
(Publication Type: Case Reports, Journal Article)
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Chemical References |
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Topics |
- Amniotic Fluid
(chemistry)
- Biopsy
- Female
- Gestational Age
- Humans
- Kidney
(embryology, pathology)
- Microscopy, Electron
- Nephrosis
(congenital, diagnosis)
- Pregnancy
- Prenatal Diagnosis
- Risk Factors
- alpha-Fetoproteins
(analysis)
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