Advances in the biology and genetics of the podocytopathies implications for diagnosis and therapy

Laura Barisoni-Thomas, H. William Schnaper, Jeffrey B. Kopp

Research output: Contribution to journalArticle

78 Citations (Scopus)

Abstract

Context.-Etiologic factors and pathways leading to altered podocyte phenotype are clearly numerous and involve the activity of different cellular function. Objective.-To focus on recent discoveries in podocyte biology and genetics and their relevance to these human glomerular diseases, named podocytopathies. Data Sources.-Genetic mutations in genes encoding for proteins in the nucleus, slit diaphragm, podocyte cytoplasm, and cell membrane are responsible for podocyte phenotype and functional abnormalities. Podocyte injury may also derive from secondary stimuli, such as mechanical stress, infections, or use of certain medications. Podo cytes can respond to injury in a limited number of ways, which include (1) effacement, (2) apoptosis, (3) arrest of development, and (4) dedifferentiation. Each of these pathways results in a specific glomerular morphology: minimal change nephropathy, focal segmental glomerulosclerosis, diffuse mesangial sclerosis, and collapsing glomerulopathy. Conclusions.-Based on current knowledge of podocyte biology, we organized etiologic factors and morphologic features in a taxonomy of podocytopathies, which provides a novel approach to the classification of these diseases. Current and experimental therapeutic approaches are also discussed.

Original languageEnglish
Pages (from-to)201-216
Number of pages16
JournalArchives of Pathology and Laboratory Medicine
Volume133
Issue number2
StatePublished - Feb 1 2009
Externally publishedYes

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Podocytes
Therapeutics
Lipoid Nephrosis
Phenotype
Focal Segmental Glomerulosclerosis
Mechanical Stress
Information Storage and Retrieval
Wounds and Injuries
Diaphragm
Cytoplasm
Cell Membrane
Apoptosis
Mutation
Infection
Proteins

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Medical Laboratory Technology

Cite this

Advances in the biology and genetics of the podocytopathies implications for diagnosis and therapy. / Barisoni-Thomas, Laura; Schnaper, H. William; Kopp, Jeffrey B.

In: Archives of Pathology and Laboratory Medicine, Vol. 133, No. 2, 01.02.2009, p. 201-216.

Research output: Contribution to journalArticle

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