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 …

Congenital anomalies of the kidney and urinary tract (CAKUT) and congenital heart disease
(CHD) are the most common congenital defects and constitute a major cause of morbidity in …

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

Abstract Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) is a developmental
disorder of the kidney and/or genito‐urinary tract that results in end stage kidney disease …

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

Background Congenital anomalies of the kidney and urinary tract (CAKUT) are the leading
cause of kidney failure in children with phenotypic and genotypic heterogeneity. Our …

Objective GREB1L has been linked prenatally to Potter's sequence, as well as less severe
anomalies of the kidney, uterus, inner ear, and heart. The full phenotypic spectrum is …

Neurogenic bladder is caused by disruption of neuronal pathways regulating bladder
relaxation and contraction. In severe cases, neurogenic bladder can lead to vesicoureteral …

Lower urinary tract dysfunction (LUTD) can manifest as a spectrum of voiding symptoms in
childhood, including urinary urgency, frequency, hesitancy, and incontinence. In severe …

Introduction: Moderate vitamin A levels during pregnancy are strongly related to normal
embryonic development in both animal models and population studies. Abnormal …