It was first demonstrated in the late nineteenth century that human deaths from fever were
typically due to infections. As the germ theory gained ground, it replaced the old, unproven …

Kidney disease is a leading cause of morbidity and mortality across the globe. Current
interventions for kidney disease include dialysis and renal transplantation, which have …

Abstract Purpose A Renal Genetics Clinic (RGC) was established to optimize diagnostic
testing, facilitate genetic counseling, and direct clinical management. Methods Retrospective …

The 17q12 recurrent deletion syndrome is characterized by variable combinations of the
three following findings: structural or functional abnormalities of the kidney and urinary tract …

Chronic kidney disease (CKD) afflicts 15% of adults in the United States, of whom 25% have
a family history. Genetic testing is supportive in identifying and possibly confirming …

Advances in next-generation sequencing (NGS) techniques, including whole exome
sequencing, have facilitated cost-effective sequencing of large regions of the genome …

The advent of next gene sequencing technology has led to the publication of a profusion of
papers on monogenic contributions to pediatric kidney disorders. It started with the discovery …

Steroid-resistant nephrotic syndrome (SRNS) is a clinical picture defined by the lack of
response to standard steroid treatment, frequently progressing toward end-stage kidney …

Background Polycystic kidney diseases (PKD) are an important cause of chronic kidney
disease (CKD). Autosomal dominant polycystic kidney disease (ADPKD) due to PKD1 or …

Living kidney donors (LKDs) with a family history of renal disease are at risk of kidney
disease as compared to LKDs without such history suggesting that some LKDs may be pre …