Guidelines for genetic testing and management of Alport syndrome
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00843989%3A_____%2F22%3AE0109567" target="_blank" >RIV/00843989:_____/22:E0109567 - isvavai.cz</a>
Alternative codes found
RIV/61988987:17110/22:A2302JS6
Result on the web
<a href="https://cjasn.asnjournals.org/content/17/1/143" target="_blank" >https://cjasn.asnjournals.org/content/17/1/143</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.2215/CJN.04230321" target="_blank" >10.2215/CJN.04230321</a>
Alternative languages
Result language
angličtina
Original language name
Guidelines for genetic testing and management of Alport syndrome
Original language description
Genetic testing for pathogenic COL4A3-5 variants is usually undertaken to investigate the cause of persistent hematuria, especially with a family history of hematuria or kidney function impairment. Alport syndrome experts now advocate genetic testing for persistent hematuria, even when a heterozygous pathogenic COL4A3 or COL4A4 is suspected, and cascade testing of their first-degree family members because of their risk of impaired kidney function. The experts recommend too that COL4A3 or COL4A4 heterozygotes do not act as kidney donors. Testing for variants in the COL4A3-COL4A5 genes should also be performed for persistent proteinuria and steroid-resistant nephrotic syndrome due to suspected inherited FSGS and for familial IgA glomerulonephritis and kidney failure of unknown cause.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30217 - Urology and nephrology
Result continuities
Project
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Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2022
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Clinical journal of the American Society of Nephrology
ISSN
1555-9041
e-ISSN
1555-905X
Volume of the periodical
17
Issue of the periodical within the volume
1
Country of publishing house
US - UNITED STATES
Number of pages
12
Pages from-to
143-154
UT code for WoS article
000732619400001
EID of the result in the Scopus database
2-s2.0-85123287024