Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of ESRD in
the first two decades of life. Effective treatment is lacking. First insights into disease …

Identification of single-gene causes of steroid-resistant nephrotic syndrome (SRNS) has
furthered the understanding of the pathogenesis of this disease. Here, using a combination of …

Results In 74 of 300 families (25%), we identified a causative mutation in one of 20 genes
known to cause steroid-resistant nephrotic syndrome. In 11 families (3.7%), we detected a …

Background Congenital anomalies of the kidney and urinary tract (CAKUT) are the most
prevalent cause of kidney disease in the first three decades of life. Previous gene panel studies …

The incidence of nephrolithiasis continues to rise. Previously, we showed that a monogenic
cause could be detected in 11.4% of individuals with adult-onset nephrolithiasis or …

No efficient treatment exists for nephrotic syndrome (NS), a frequent cause of chronic kidney
disease. Here we show mutations in six different genes (MAGI2, TNS2, DLC1, CDK20, …

Background Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of CKD. The
discovery of monogenic causes of SRNS has revealed specific pathogenetic pathways, but …

Background Acute kidney injury (AKI) is a common problem encountered in critically ill children
with an increasing incidence and evolving epidemiology. AKI carries a serious morbidity …

Background Few data exist for the genetic variants underlying the risk for steroid-sensitive
nephrotic syndrome (SSNS) in children. The objectives of this study were to evaluate HLA-…

Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of chronic kidney disease.
Here, we identified recessive mutations in the gene encoding the actin-binding protein …