Congenital anomalies of the kidneys and urinary tracts (CAKUT) are disorders caused by
defects in the development of the kidneys and their outflow tracts. The formation of the …

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

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 …

During the past decades, remarkable progress has been made in our understanding of the
molecular basis of kidney diseases, as well as in the ability to pinpoint disease-causing …

Abstract Chronic Kidney Disease (CKD) represents a slowly progressive disorder that is
typically silent until late stages, but early intervention can significantly delay its progression …

Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a large variety of
malformations that arise from defective kidney or urinary tract development and frequently …

Importance The prevalence and importance of congenital anomalies of the kidney and
urinary tract (CAKUT) in preterm infants is unknown. Objective To determine the prevalence …

The genetic spectrum of Gitelman(-like) syndromes : Current Opinion in Nephrology and
Hypertension The genetic spectrum of Gitelman(-like) syndromes : Current Opinion in …

In many cases of chronic kidney disease, the cause of disease remains unknown despite a
thorough nephrologic workup. Genetic testing has revolutionized many areas of medicine …