A primer on congenital anomalies of the kidneys and urinary tracts (CAKUT)

V Murugapoopathy, IR Gupta - … Journal of the American Society of …, 2020 - journals.lww.com
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 …

The genetics and pathogenesis of CAKUT

CM Kolvenbach, S Shril, F Hildebrandt - Nature Reviews Nephrology, 2023 - nature.com
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 …

Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice

N Knoers, C Antignac, C Bergmann… - Nephrology Dialysis …, 2022 - academic.oup.com
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 …

[KİTAP][B] Pediatric nephrology

ED Avner, W Harmon, P Niaudet, P Niaudet - 2004 - books.google.com
Pediatric Nephrology is the premier comprehensive reference on congenital and acquired
kidney diseases and their therapies in children. Section One opens with an overview of the …

Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players

A Domingo-Gallego, M Pybus, G Bullich… - Nephrology Dialysis …, 2022 - academic.oup.com
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 …

Rare copy-number variants as modulators of common disease susceptibility

C Auwerx, M Jõeloo, MC Sadler, N Tesio, S Ojavee… - Genome medicine, 2024 - Springer
Abstract Background Copy-number variations (CNVs) have been associated with rare and
debilitating genomic disorders (GDs) but their impact on health later in life in the general …

The genetic basis of congenital anomalies of the kidney and urinary tract

M Kagan, O Pleniceanu, A Vivante - Pediatric Nephrology, 2022 - Springer
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 …

Clinical genetic screening in adult patients with kidney disease

E Cocchi, JG Nestor, AG Gharavi - Clinical Journal of the …, 2020 - journals.lww.com
Expanded accessibility of genetic sequencing technologies, such as chromosomal
microarray and massively parallel sequencing approaches, is changing the management of …

The prevalence and clinical significance of congenital anomalies of the kidney and urinary tract in preterm infants

T Hays, MV Thompson, DA Bateman, R Sahni… - JAMA Network …, 2022 - jamanetwork.com
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 …

Medical records-based chronic kidney disease phenotype for clinical care and “big data” observational and genetic studies

N Shang, A Khan, F Polubriaginof, F Zanoni… - NPJ digital …, 2021 - nature.com
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 …