CLINICAL AND PATHOLOGICAL FINDINGS IN 2 SIBLINGS WITH CONGENITAL NEPHROTIC SYNDROME

We report the clinical and pathologic findings of 2 siblings affected with congenital nephrotic syndrome (CNS). The parents were a nonconsan guineous Mexican couple. The first sibling was born at term and develo ped proteinuria, hypoproteinemia, edema and ascites by its second mont h of life; he died septic at 6 months of age. The second sibling was d iagnosed with congenital nephrosis during the second trimester of preg nancy. Prenatal demonstration of reno-placentomegaly can help in makin g the presumptive diagnosis of CNS in patients with, high maternal ser um and amniotic fluid AFP, normal acetylcholinesterase and normal kary otype. The pathologic findings of the kidneys of these siblings demons trate that tubular microcysts are not critical to the disease process and are only the manifestation of a progressive disease in which the p rimary renal defect probably resides in a lack of integrity of the glo merular epithelial cells serving as filter.