Genetic nephrotic syndrome associated with disturbed function of glomerular slit membrane and podocyte cytoskeleton in children

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F23%3A10451372" target="_blank" >RIV/00064203:_____/23:10451372 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/23:10451372

Result on the web

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=pVGjPOfRpR" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=pVGjPOfRpR</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1007/s10157-022-02305-x" target="_blank" >10.1007/s10157-022-02305-x</a>

Result language

angličtina

Original language name

Genetic nephrotic syndrome associated with disturbed function of glomerular slit membrane and podocyte cytoskeleton in children

Original language description

BACKGROUND: Genetic nephrotic syndrome is caused by pathogenic variants in genes encoding proteins necessary for the stability and functionality of the glomerular filtration barrier. To date, more than 70 genes associated with steroid-resistant nephrotic syndrome have been identified. We review the clinical and molecular aspects of genetic nephrotic syndrome with a particular focus on genes associated with slit membrane and podocyte cytoskeleton defects. Sanger sequencing and next-generation sequencing are widely used in the identification of novel gene variants and help us gain a better understanding of the disease. Despite these findings, therapy is mainly supportive and focused on the reduction of proteinuria and management of chronic kidney disease with an unfavorable outcome for a significant proportion of cases. Positive therapeutic effects of immunosuppressive drugs have been reported in some patients; however, their long-time administration cannot be generally recommended. CONCLUSION: Personalized treatment based on understanding the distinct disease pathogenesis is needed. With this, it will be possible to avoid harmful immunosuppressive therapy and improve outcomes and quality of life for pediatric patients suffering from genetic nephrotic syndrome.

Czech name

—

Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30209 - Paediatrics

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2023

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Clinical and Experimental Nephrology

ISSN

1342-1751

e-ISSN

1437-7799

Volume of the periodical

27

Issue of the periodical within the volume

2

Country of publishing house

JP - JAPAN

Number of pages

9

Pages from-to

101-109

UT code for WoS article

000895569100001

EID of the result in the Scopus database

2-s2.0-85143620817