Chronic kidney disease (CKD) is a major healthcare issue worldwide. However, the
prevalence of pediatric CKD has never been systematically assessed and consistent …

Familial hematuria is a clinical sign of a genetically heterogeneous group of conditions,
accompanied by broad inter-and intrafamilial variable expressivity. The most frequent …

Genetic kidney disease is common but often unrecognized. It accounts for most cystic kidney
diseases and tubulopathies, many forms of congenital abnormalities of the kidney and …

Background Genetic causes are increasingly recognized in patients with focal segmental
glomerulosclerosis (FSGS), but it remains unclear which patients should undergo genetic …

Purpose of review: Diabetic kidney disease (DKD) is a leading cause of chronic kidney
disease (CKD) for which many treatments exist that have been shown to prevent CKD …

Chronic kidney disease is a long-term condition with significant implications for quality of life
and health care costs. To uncover the etiology in selected cases suspected of monogenicity …

Clinical genetics is increasingly recognized as an important area within nephrology care.
Clinicians require awareness of genetic kidney disease to recognize clinical phenotypes …

Background Steroid-resistant nephrotic syndrome (SRNS) are monogenic in some cases,
however, there are still no clear guidelines on genetic testing in the clinical practice of SRNS …

The completion of the Human Genome Project in the early 2000s has fostered a significant
advance in the knowledge of the human DNA, opening the way for the genomic revolution in …

Background: Chronic kidney disease affects 10% of the world population, and it is
associated with progression to end-stage kidney disease and increased morbidity and …