Congenital Nephrotic Syndrome Type 1 (Congenital Nephrotic Syndrome of the Finnish Type—CNF) is an autosomal recessive disorder encoding by nephrin gene mutation which is a (transmembrane protein 1-homolog—NPHS1) st...Congenital Nephrotic Syndrome Type 1 (Congenital Nephrotic Syndrome of the Finnish Type—CNF) is an autosomal recessive disorder encoding by nephrin gene mutation which is a (transmembrane protein 1-homolog—NPHS1) structural component of the slit diaphragm responsible for the proper functioning of the renal filtration barrier. In NPHS1 kidneys there is an effacement of the foot processes of the podocytes and impaired glomerular filtration barrier leading to antenatal manifestations and end-renal stage of disease after birth. We present a case of this disease where sonographic appearance of the fetal kidneys had alerted the experts for further genetic investigation for congenital nephrotic syndrome.展开更多
文摘Congenital Nephrotic Syndrome Type 1 (Congenital Nephrotic Syndrome of the Finnish Type—CNF) is an autosomal recessive disorder encoding by nephrin gene mutation which is a (transmembrane protein 1-homolog—NPHS1) structural component of the slit diaphragm responsible for the proper functioning of the renal filtration barrier. In NPHS1 kidneys there is an effacement of the foot processes of the podocytes and impaired glomerular filtration barrier leading to antenatal manifestations and end-renal stage of disease after birth. We present a case of this disease where sonographic appearance of the fetal kidneys had alerted the experts for further genetic investigation for congenital nephrotic syndrome.
