Cell death, particularly that of tubule epithelial cells, contributes critically to the
pathophysiology of kidney disease. A body of evidence accumulated over the past 15 years …

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

Chronic kidney disease (CKD) is a silent and poorly known killer. The current concept of
CKD is relatively young and uptake by the public, physicians and health authorities is not …

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

The uptake of the current concept of chronic kidney disease (CKD) by the public, physicians
and health authorities is low. Physicians still mix up CKD with chronic kidney insufficiency or …

Background Chronic kidney disease (CKD) is a non-communicable disease that includes a
range of different physiological disorders that are associated with abnormal renal function …

Genetic kidney disease is common but often unrecognized. It accounts for most cystic kidney
diseases and tubulopathies, many forms of CAKUT, and some glomerulopathies. Genetic …

Bartter (BS) and Gitelman (GS) syndrome are autosomal recessive inherited tubulopathies,
whose clinical diagnosis can be challenging, due to rarity and phenotypic overlap. Genotype …

Purpose Inherited kidney diseases are among the leading causes of kidney failure in
children, resulting in increased mortality, high healthcare costs and need for organ …

Background: Inherited kidney diseases (IKDs) are a group of kidney diseases characterized
by abnormal kidney structure or function caused by genetic factors, but they are not easily …