{"title":"Genetic Spectrum of Nephrotic Syndrome: Impact of Podocytopathy in Adult Life","authors":"Susan Massengill , Howard Trachtman","doi":"10.1053/j.ackd.2022.04.005","DOIUrl":null,"url":null,"abstract":"<div><p><span>A substantial number of patients with focal segmental glomerulosclerosis (FSGS) have a pathogenic genetic mutation in a </span>podocyte<span> protein as the cause of their disease. The mutations can affect a wide range of cell functions including the actin cytoskeleton<span><span>, cell adhesion and motility, mitochondrial function, and nuclear pore proteins. The likelihood of a genetic cause declines with age, from approximately 30% in children and adolescents to 10% in adulthood, and the specific proteins involved and the pattern of inheritance differ in the 2 age groups. The presence of a genetic cause for FSGS can have important clinical ramifications including the need for a diagnostic </span>kidney biopsy<span><span>, medical management, and the risk of recurrent disease after kidney transplantation. This review summarizes the spectrum of genetic causes of </span>nephrotic syndrome, primarily FSGS, in adults with a focus on diagnosis, presentation, and management.</span></span></span></p></div>","PeriodicalId":7221,"journal":{"name":"Advances in chronic kidney disease","volume":"29 3","pages":"Pages 221-224"},"PeriodicalIF":2.0000,"publicationDate":"2022-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Advances in chronic kidney disease","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1548559522000738","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"UROLOGY & NEPHROLOGY","Score":null,"Total":0}
引用次数: 1
Abstract
A substantial number of patients with focal segmental glomerulosclerosis (FSGS) have a pathogenic genetic mutation in a podocyte protein as the cause of their disease. The mutations can affect a wide range of cell functions including the actin cytoskeleton, cell adhesion and motility, mitochondrial function, and nuclear pore proteins. The likelihood of a genetic cause declines with age, from approximately 30% in children and adolescents to 10% in adulthood, and the specific proteins involved and the pattern of inheritance differ in the 2 age groups. The presence of a genetic cause for FSGS can have important clinical ramifications including the need for a diagnostic kidney biopsy, medical management, and the risk of recurrent disease after kidney transplantation. This review summarizes the spectrum of genetic causes of nephrotic syndrome, primarily FSGS, in adults with a focus on diagnosis, presentation, and management.
期刊介绍：
The purpose of Advances Chronic Kidney Disease is to provide in-depth, scholarly review articles about the care and management of persons with early kidney disease and kidney failure, as well as those at risk for kidney disease. Emphasis is on articles related to the early identification of kidney disease; prevention or delay in progression of kidney disease
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