Clinical and pathological phenotype of genetic causes of focal segmental glomerulosclerosis in adults

Nicola Lepori, Ladan Zand, Sanjeev Sethi, Gema Fernandez-Juarez, Fernando C. Fervenza

Research output: Contribution to journalReview article

12 Scopus citations

Abstract

Focal segmental glomerulosclerosis (FSGS) is a histologic lesion resulting from a variety of pathogenic processes that cause injury to the podocytes. Recently, mutations in more than 50 genes expressed in podocyte or glomerular basement membrane were identified as causing genetic forms of FSGS, the majority of which are characterized by onset in childhood. The prevalence of adult-onset genetic FSGS is likely to be underestimated and its clinical and histological features have not been clearly described. A small number of studies of adult-onset genetic FSGS showed that there is heterogeneity in clinical and histological findings, with a presentation ranging from sub-nephrotic proteinuria to full nephrotic syndrome. A careful evaluation of adult-onset FSGS that do not have typical features of primary or secondary FSGS (familial cases, resistance to immunosuppression and absence of evident cause of secondary FSGS) should include a genetic evaluation. Indeed, recognizing genetic forms of adult-onset FSGS is of the utmost importance, given that this diagnosis will have major implications on treatment strategies, selecting of living-related kidney donor and renal transplantation success.

Original languageEnglish (US)
Pages (from-to)179-190
Number of pages12
JournalClinical Kidney Journal
Volume11
Issue number2
DOIs
StatePublished - Apr 1 2018
Externally publishedYes

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Keywords

  • Genetic FSGS
  • Nephrotic syndrome
  • Podocin
  • Podocytopathies
  • Steroid-resistant nephrotic syndrome

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