Familial forms of nephrotic syndrome

Gianluca Caridi, Antonella Trivelli, Simone Sanna-Cherchi, Francesco Perfumo, Gian Marco Ghiggeri

Research output: Contribution to journalArticle

Abstract

The recent discovery of genes involved in familial forms of nephrotic syndrome represents a breakthrough in nephrology. To date, 15 genes have been characterized and several new loci have been identified, with a potential for discovery of new genes. Overall, these genes account for a large fraction of familial forms of nephrotic syndrome, but they can also be recognized in 10- 20% of sporadic cases. These advances increase diagnostic and therapeutic potentials, but also add higher complexity to the scenario, requiring clear definitions of clinical, histopathological and molecular signatures. In general, genetic forms of nephrotic syndrome are resistant to common therapeutic approaches (that include steroids and calcineurin inhibitors) but, in a few cases, drug response or spontaneous remission suggest a complex pathogenesis. Finally, syndromic variants can be recognized on the basis of the associated extra-renal manifestations. In this educational review, clinical, histological and molecular aspects of various forms of familial nephrotic syndrome have been reviewed in an attempt to define a rational diagnostic approach. The proposed model focuses on practical and economic issues, taking into consideration the impossibility of using genetic testing as starting diagnostic tool. The final objective of this review is to outline a diagnostic flow-chart for clinicians and geneticists and to generate a rational scheme for molecular testing.

Original languageEnglish
Pages (from-to)241-252
Number of pages12
JournalPediatric Nephrology
Volume25
Issue number2
DOIs
Publication statusPublished - Feb 2010

Fingerprint

Nephrotic Syndrome
Genetic Association Studies
Spontaneous Remission
Nephrology
Genetic Testing
Genes
Steroids
Economics
Kidney
Therapeutics
Pharmaceutical Preparations

Keywords

  • Molecular genetics
  • Nephrin
  • Nephrotic syndrome
  • Podocin
  • Podocytes

ASJC Scopus subject areas

  • Nephrology
  • Pediatrics, Perinatology, and Child Health
  • Medicine(all)

Cite this

Familial forms of nephrotic syndrome. / Caridi, Gianluca; Trivelli, Antonella; Sanna-Cherchi, Simone; Perfumo, Francesco; Ghiggeri, Gian Marco.

In: Pediatric Nephrology, Vol. 25, No. 2, 02.2010, p. 241-252.

Research output: Contribution to journalArticle

Caridi, Gianluca ; Trivelli, Antonella ; Sanna-Cherchi, Simone ; Perfumo, Francesco ; Ghiggeri, Gian Marco. / Familial forms of nephrotic syndrome. In: Pediatric Nephrology. 2010 ; Vol. 25, No. 2. pp. 241-252.
@article{1b699745580445279dbf3b1934c23ab8,
title = "Familial forms of nephrotic syndrome",
abstract = "The recent discovery of genes involved in familial forms of nephrotic syndrome represents a breakthrough in nephrology. To date, 15 genes have been characterized and several new loci have been identified, with a potential for discovery of new genes. Overall, these genes account for a large fraction of familial forms of nephrotic syndrome, but they can also be recognized in 10- 20{\%} of sporadic cases. These advances increase diagnostic and therapeutic potentials, but also add higher complexity to the scenario, requiring clear definitions of clinical, histopathological and molecular signatures. In general, genetic forms of nephrotic syndrome are resistant to common therapeutic approaches (that include steroids and calcineurin inhibitors) but, in a few cases, drug response or spontaneous remission suggest a complex pathogenesis. Finally, syndromic variants can be recognized on the basis of the associated extra-renal manifestations. In this educational review, clinical, histological and molecular aspects of various forms of familial nephrotic syndrome have been reviewed in an attempt to define a rational diagnostic approach. The proposed model focuses on practical and economic issues, taking into consideration the impossibility of using genetic testing as starting diagnostic tool. The final objective of this review is to outline a diagnostic flow-chart for clinicians and geneticists and to generate a rational scheme for molecular testing.",
keywords = "Molecular genetics, Nephrin, Nephrotic syndrome, Podocin, Podocytes",
author = "Gianluca Caridi and Antonella Trivelli and Simone Sanna-Cherchi and Francesco Perfumo and Ghiggeri, {Gian Marco}",
year = "2010",
month = "2",
doi = "10.1007/s00467-008-1051-3",
language = "English",
volume = "25",
pages = "241--252",
journal = "Pediatric Nephrology",
issn = "0931-041X",
publisher = "Springer Verlag",
number = "2",

}

TY - JOUR

T1 - Familial forms of nephrotic syndrome

AU - Caridi, Gianluca

AU - Trivelli, Antonella

AU - Sanna-Cherchi, Simone

AU - Perfumo, Francesco

AU - Ghiggeri, Gian Marco

PY - 2010/2

Y1 - 2010/2

N2 - The recent discovery of genes involved in familial forms of nephrotic syndrome represents a breakthrough in nephrology. To date, 15 genes have been characterized and several new loci have been identified, with a potential for discovery of new genes. Overall, these genes account for a large fraction of familial forms of nephrotic syndrome, but they can also be recognized in 10- 20% of sporadic cases. These advances increase diagnostic and therapeutic potentials, but also add higher complexity to the scenario, requiring clear definitions of clinical, histopathological and molecular signatures. In general, genetic forms of nephrotic syndrome are resistant to common therapeutic approaches (that include steroids and calcineurin inhibitors) but, in a few cases, drug response or spontaneous remission suggest a complex pathogenesis. Finally, syndromic variants can be recognized on the basis of the associated extra-renal manifestations. In this educational review, clinical, histological and molecular aspects of various forms of familial nephrotic syndrome have been reviewed in an attempt to define a rational diagnostic approach. The proposed model focuses on practical and economic issues, taking into consideration the impossibility of using genetic testing as starting diagnostic tool. The final objective of this review is to outline a diagnostic flow-chart for clinicians and geneticists and to generate a rational scheme for molecular testing.

AB - The recent discovery of genes involved in familial forms of nephrotic syndrome represents a breakthrough in nephrology. To date, 15 genes have been characterized and several new loci have been identified, with a potential for discovery of new genes. Overall, these genes account for a large fraction of familial forms of nephrotic syndrome, but they can also be recognized in 10- 20% of sporadic cases. These advances increase diagnostic and therapeutic potentials, but also add higher complexity to the scenario, requiring clear definitions of clinical, histopathological and molecular signatures. In general, genetic forms of nephrotic syndrome are resistant to common therapeutic approaches (that include steroids and calcineurin inhibitors) but, in a few cases, drug response or spontaneous remission suggest a complex pathogenesis. Finally, syndromic variants can be recognized on the basis of the associated extra-renal manifestations. In this educational review, clinical, histological and molecular aspects of various forms of familial nephrotic syndrome have been reviewed in an attempt to define a rational diagnostic approach. The proposed model focuses on practical and economic issues, taking into consideration the impossibility of using genetic testing as starting diagnostic tool. The final objective of this review is to outline a diagnostic flow-chart for clinicians and geneticists and to generate a rational scheme for molecular testing.

KW - Molecular genetics

KW - Nephrin

KW - Nephrotic syndrome

KW - Podocin

KW - Podocytes

UR - http://www.scopus.com/inward/record.url?scp=77950465577&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=77950465577&partnerID=8YFLogxK

U2 - 10.1007/s00467-008-1051-3

DO - 10.1007/s00467-008-1051-3

M3 - Article

C2 - 19066979

AN - SCOPUS:77950465577

VL - 25

SP - 241

EP - 252

JO - Pediatric Nephrology

JF - Pediatric Nephrology

SN - 0931-041X

IS - 2

ER -