Podocytopathies are kidney diseases in which direct or indirect podocyte injury drives
proteinuria or nephrotic syndrome. In children and young adults, genetic variants in> 50 …

Glomerular Filtration and Albuminuria Chronic kidney diseases generally arise from a
disordered kidney filtration barrier within glomeruli. This review describes the roles of …

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 …

Podocytes are an integral part of the glomerular filtration barrier, a structure that prevents
filtration of large proteins and macromolecules into the urine. Podocyte function is …

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

Background Whole-exome sequencing (WES) finds a CKD-related mutation in
approximately 20% of patients presenting with CKD before 25 years of age. Although …

Background Inherited kidney diseases are one of the leading causes of chronic kidney
disease (CKD) that manifests before the age of 30 years. Precise clinical diagnosis of early …

Expanded accessibility of genetic sequencing technologies, such as chromosomal
microarray and massively parallel sequencing approaches, is changing the management of …

Background Whole-exome sequencing (WES) increases the diagnostic rate of genetic
kidney disorders, but accessibility, interpretation of results, and costs limit use in daily …

There are 4 classic features of nephrotic syndrome (Box 1). 1 There are many different
causes of nephrotic syndrome (Table 1), but they share a common pathophysiology …