This article is published as part of a supplement sponsored by Kidney Disease: Improving
Global Outcomes (KDIGO). The opinions or views expressed in this supplement are those of …

Genetic kidney disease comprises a diverse group of disorders. These can roughly be
divided in the phenotype groups congenital anomalies of the kidney and urinary tract …

Disorders of the autosomal dominant polycystic kidney disease (ADPKD) spectrum are
characterized by the development of kidney cysts and progressive kidney function decline …

Numerous genes for monogenic kidney diseases with classical patterns of inheritance, as
well as genes for complex kidney diseases that manifest in combination with environmental …

Congenital anomalies of the kidney and urinary tract form a spectrum of congenital structural
disorders that are generally known under the term CAKUT. The term CAKUT was introduced …

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

Introduction Comprehensive genetic analysis is essential to clinical care of patients with
atypical haemolytic uremic syndrome (aHUS) to reinforce diagnosis, and to guide treatment …

Background Genetic testing in CKD has recently been shown to have diagnostic utility with
many predicted implications for clinical management, but its effect on management has not …

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 Congenital obstructive uropathy (COU) is a common cause of developmental
defects of the urinary tract, with heterogeneous clinical presentation and outcome. Genetic …