High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases.
ARHGDIA
COQ6
Iran
NUP205
SGPL1
SRNS
nephrotic syndrome
Journal
Frontiers in pediatrics
ISSN: 2296-2360
Titre abrégé: Front Pediatr
Pays: Switzerland
ID NLM: 101615492
Informations de publication
Date de publication:
2022
2022
Historique:
received:
21
06
2022
accepted:
11
08
2022
entrez:
17
10
2022
pubmed:
18
10
2022
medline:
18
10
2022
Statut:
epublish
Résumé
Steroid resistant nephrotic syndrome (SRNS) represents a significant renal disease burden in childhood and adolescence. In contrast to steroid sensitive nephrotic syndrome (SSNS), renal outcomes are significantly poorer in SRNS. Over the past decade, extensive genetic heterogeneity has become evident while disease-causing variants are still only identified in 30% of cases in previously reported studies with proportion and type of variants identified differing depending on the age of onset and ethnical background of probands. A genetic diagnosis however can have implications regarding clinical management, including kidney transplantation, extrarenal disease manifestations, and, in some cases, even causal therapy. Genetic diagnostics therefore play an important role for the clinical care of SRNS affected individuals. Here, we performed In line with previous studies in non-Iranian subjects, we most frequently identified disease-causing variants in
Sections du résumé
Background
UNASSIGNED
Steroid resistant nephrotic syndrome (SRNS) represents a significant renal disease burden in childhood and adolescence. In contrast to steroid sensitive nephrotic syndrome (SSNS), renal outcomes are significantly poorer in SRNS. Over the past decade, extensive genetic heterogeneity has become evident while disease-causing variants are still only identified in 30% of cases in previously reported studies with proportion and type of variants identified differing depending on the age of onset and ethnical background of probands. A genetic diagnosis however can have implications regarding clinical management, including kidney transplantation, extrarenal disease manifestations, and, in some cases, even causal therapy. Genetic diagnostics therefore play an important role for the clinical care of SRNS affected individuals.
Methodology and results
UNASSIGNED
Here, we performed
Conclusion
UNASSIGNED
In line with previous studies in non-Iranian subjects, we most frequently identified disease-causing variants in
Identifiants
pubmed: 36245711
doi: 10.3389/fped.2022.974840
pmc: PMC9555279
doi:
Types de publication
Journal Article
Langues
eng
Pagination
974840Informations de copyright
Copyright © 2022 Najafi, Riedhammer, Rad, Torbati, Berutti, Schüle, Schroda, Meitinger, Ćomić, Bojd, Baranzehi, Shojaei, Azarfar, Khazaei, Köttgen, Backofen, Karimiani, Hoefele and Schmidts.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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