Despite the strong association of MetS with CKD, a causal relationship has not been proven.
More studies are needed to precisely elucidate the mechanisms that might lead upstream …

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 …

Chronic kidney disease (CKD) is an emerging non-communicable disease worldwide. The
Arab countries have a high prevalence of CKD risk factors, eg diabetes, obesity and …

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 …

… Jameela Kari, Nephrourology Unit, Institute of Child Health and Great Ormond Street
Hospital for Children. 30 Guildford Street, London WCJN JEH, England, United Kingdom. …

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 …

Galloway–Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by
the combination of early-onset nephrotic syndrome (SRNS) and microcephaly with brain …

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 …

… Author links open overlay panel Jameela A. Kari , Claudia Gonzalez , Sarah E. Ledermann
, Vanessa Shaw , Lesley Rees … JA Kari, J. Romagnoli, ON Fernando, L. Rees, RS Trompeter …