Congenital nephrotic syndrome: clinico-pathological heterogeneity and prenatal diagnosis.

摘要: During the last five years, we have observed four families in which siblings were affected with congenital nephrotic syndrome (CN). Clinically, all patients, one exception, could barely be differentiated from classical examples of CN Finnish Type (CNF). Morphologically, however, each family showed a different type CN, although appearance was identical. This morphological heterogeneity, makes it likely that population outside Finland is result an unknown number autosomal recessive mutations at gene loci. In attempt to diagnose prenatally by means measurements concentration alpha-fetoprotein amniotic fluid, found two false normal results, patient histologically confirmed CNF, another non Type. Thus results prenatal diagnostic procedures for these disorders reevaluated.