Article ; Online: [Congenital Nephrotic Syndrome: Role of Podxl Gene].
Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia
2023 Volume 40, Issue 6
Abstract: In the last decades, our understanding of the genetic disorders of inherited podocytopathies has advanced immensely; this has been possible thanks to the development of next-generation sequencing technologies that offer the possibility to evaluate ... ...
Abstract | In the last decades, our understanding of the genetic disorders of inherited podocytopathies has advanced immensely; this has been possible thanks to the development of next-generation sequencing technologies that offer the possibility to evaluate targeted genes at a lower cost than in the past. Identifying new genetic mutations has helped to recognize the key role of the podocyte in the health of the glomerular filter and to understand the mechanisms that regulate the cell biology and pathology of the podocyte. Here we describe a patient with congenital nephrotic syndrome due to a mutation in PODXL. This gene encodes podocalyxin, a podocyte-specific surface sialomucin known to maintain the characteristic architecture of the foot processes and the patency of the filtration slits. |
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MeSH term(s) | Humans ; Kidney Diseases/metabolism ; Kidney Glomerulus/pathology ; Nephrotic Syndrome/genetics ; Podocytes/metabolism |
Language | Italian |
Publishing date | 2023-12-22 |
Publishing country | Italy |
Document type | Case Reports ; English Abstract ; Journal Article |
ZDB-ID | 1237110-5 |
ISSN | 1724-5990 ; 0393-5590 |
ISSN (online) | 1724-5990 |
ISSN | 0393-5590 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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