作者: Gianluca Caridi , Francesco Perfumo , Gian Marco Ghiggeri
DOI: 10.1203/01.PDR.0000160446.01907.B1
关键词: Bioinformatics 、 Proteinuria 、 Pathology 、 Stomatin 、 Nephrin 、 Uremia 、 Phenotype 、 Nephrotic syndrome 、 Podocin 、 Glomerulonephritis 、 Medicine
摘要: Nephrotic syndrome (NS) is the most frequent cause of proteinuria in children and emerging as a leading uremia. Molecular studies families with recessive NS have led to discovery specialized molecules endowed podocytes that play role proteinuria. This review focalizes key position podocin (NPHS2 gene) this rapidly evolving field furnishes compendium those involved clinics genetics NS. Screening for NPHS2 mutations been done sporadic familial cases inheritance, documenting mutation detection rate 45-55% 8-20% according different groups considering all clinical phenotypes. Almost 50 reported variants and/or non silent polymorphisms potentially were recognized. Personalized data on aspects related responsiveness drugs, evolution end stage renal failure post-transplant outcome are reported. Functional cell sorting experiments demonstrated retention endoplasmic reticulum mutants involving stomatin domain. Pull-down common R229Q polymorphism an altered interaction nephrin affects stability functional unit. Overall, here presented underscore major inherited defects (including relevant impact cases) give rationale association. A practical also given clinicians management should modify classic therapeutic approach.