[Congenital nephrotic syndrome].
Although congenital nephrotic syndromes (CNS) form a heterogenous group of disease characterized by proteinuria shortly after birth, the most common type of CNS is the congenital NS of the Finnish type (CNF). CNF is an autosomal recessive disease, and caused by mutations in the gene (NPHS1) for nephrin which is a key component of the podocyte slit diaphragm. In this review, some special issues concerning clinical and molecular diagnosis for CNS and optimal management of CNF patients were briefly summarized.
Hattori
Motoshi
M
Department of Pediatric Nephrology, Kidney Center, Tokyo Women's Medical University, School of Medicine.
D000418:Albumins / Q000008:administration & dosage; D000806:Angiotensin-Converting Enzyme Inhibitors / Q000627:therapeutic use; D004359:Drug Therapy, Combination; D005808:Genes, Recessive; D006801:Humans; D007213:Indomethacin / Q000627:therapeutic use; D007223:Infant; D016030:Kidney Transplantation; D008565:Membrane Proteins; D009154:Mutation; D009392:Nephrectomy; D009404:Nephrotic Syndrome / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D011506:Proteins / Q000235:genetics; D011507:Proteinuria / Q000209:etiology; D013963:Thyroid Hormones / Q000008:administration & dosage
D000418:Albumins; D000806:Angiotensin-Converting Enzyme Inhibitors; D008565:Membrane Proteins; D011506:Proteins; D013963:Thyroid Hormones; C113267:nephrin; D007213:Indomethacin