Chronic kidney disease (CKD) is defined by persistent urine abnormalities, structural
abnormalities or impaired excretory renal function suggestive of a loss of functional …

The global nephrology community recognises the need for a cohesive plan to address the
problem of chronic kidney disease (CKD). In July, 2016, the International Society of …

Chronic kidney disease (CKD) is a major health problem worldwide. Although relatively
uncommon in children, it can be a devastating illness with many long-term consequences …

Approximately 500 monogenic causes of chronic kidney disease (CKD) have been
identified, mainly in pediatric populations. The frequency of monogenic causes among …

The overall diagnostic yield of massively parallel sequencing–based tests in patients with
chronic kidney disease (CKD) is 30% for paediatric cases and 6–30% for adult cases. These …

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 …

Purpose To determine the diagnostic yield and clinical impact of exome sequencing (ES) in
patients with suspected monogenic kidney disease. Methods We performed clinically …

Expression quantitative trait loci (eQTL) studies illuminate the genetics of gene expression
and, in disease research, can be particularly illuminating when using the tissues directly …

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 …

Molecular diagnosis of inherited kidney diseases remains a challenge due to their
expanding phenotypic spectra as well as the constantly growing list of disease-causing …