[Genetic heterogeneity and pathology of congenital nephrotic syndrome and its significance in prenatal diagnosis].
Familial occurrence of congenital nephrotic syndrome (CN) has been most extensively studied in Finland where it is known to be inherited as an autosomal recessive disease. In this Finnish type of congenital nephrotic syndrome (CNF) prenatal diagnosis by alphafetoprotein (AFP) determination in the amniotic fluid has been reported to be conclusive. Within the last six years we observed 10 cases of CN occurring in 5 families. In all patients renal histology has been studied. Although each family presented a different type of CN, the appearance within the same sibship was always identical.
Braga
S
S
Moser
H
H
Zimmermann
A
A
Oetliker
O
O
D000328:Adult; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000473:pathology; D008297:Male; D009404:Nephrotic Syndrome / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D000509:alpha-Fetoproteins / Q000032:analysis
D000509:alpha-Fetoproteins
L'hétérogénéité génétique et pathologique du syndrome néphrotique congénital et sa signification pour le diagnostic prénatal.