High Diagnostic Yield of Genetic Screening in Autosomal Dominant Steroid‐Resistant Nephrotic Syndrome: Predominance of <scp>INF2</scp> and <scp>TRPC6</scp> and Identification of a Novel Gene

This study represents the first comprehensive genetic analysis of AD-SRNS in North Africa, demonstrating a high diagnostic yield and expanding the AD-SRNS spectrum through the identification of a novel gene candidate. These findings highlight the importance of integrating genomic testing into routine nephrology practice, particularly in underrepresented populations.

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Publication Details

Journal
Nephrology
Published
2025-12-01
DOI
https://doi.org/10.1111/nep.70152
Primary Topic
Renal Diseases and Glomerulopathies
Type
article
Field-Weighted Citation Impact
0.00
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article

High Diagnostic Yield of Genetic Screening in Autosomal Dominant Steroid‐Resistant Nephrotic Syndrome: Predominance of INF2 and TRPC6 and Identification of a Novel Gene

L. Azouaou
Nephrology
Renal Diseases and Glomerulopathies
article

High Diagnostic Yield of Genetic Screening in Autosomal Dominant Steroid‐Resistant Nephrotic Syndrome: Predominance of INF2 and TRPC6 and Identification of a Novel Gene

L. Azouaou
article en

Abstract

This study represents the first comprehensive genetic analysis of AD-SRNS in North Africa, demonstrating a high diagnostic yield and expanding the AD-SRNS spectrum through the identification of a novel gene candidate. These findings highlight the importance of integrating genomic testing into routine nephrology practice, particularly in underrepresented populations.

NephrologyVol. 30(12)
University of Algiers Benyoucef Benkhedda (DZ), National Higher School of Statistics and Applied Economy (DZ), University of Algiers 3 (DZ), Centre Hospitalo-Universitaire Bab El Oued (DZ)
Openalex Percentile: Top 53%
Renal Diseases and Glomerulopathies
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