METHOD FOR THE DETECTION OF CONGENITAL NEPHROTIC SYNDROME

摘要

The present invention is directed to a method for detection of congenital nephrotic syndrome of the Finnish type (NPHS1) by identification of mutated nephrin at a localized portion of the slit diaphragm area. The congenital nephrotic syndrome of the Finnish type (NPHS1), a disease in which the nephrin gene is mutated, is characterized by massive proteinuria already in utero and lack of slit diaphragm and foot processes. This, together with the now demonstrated localization of nephrin to the slit diaphragm area, suggests an essential role for this novel protein in the normal glomerular filtration barrier. A zipper-like model for nephrin assembly in the slit disphragm is discussed.