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 …

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 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 …

Rare early-onset lower urinary tract disorders include defects of functional maturation of the
bladder. Current treatments do not target the primary pathobiology of these diseases. Some …

Background Galloway-Mowat syndrome (GAMOS) is characterized by neurodevelopmental
defects and a progressive nephropathy, which typically manifests as steroid-resistant …

Urofacial (also called Ochoa) syndrome (UFS) is an autosomal recessive congenital
disorder of the urinary bladder featuring voiding dysfunction and a grimace upon smiling …

Objective To determine the molecular basis of a new monogenetic recessive disorder that
results in familial autonomic ganglionopathy with diffuse autonomic failure. Methods Two …

膀胱出口梗阻(BOO) 增加了排尿阻力, 也延长了膀胱内高压的持续时间. 腔内压力升高使逼尿肌
受到的静水压力和机械拉伸力超出负荷时, 促发了肌细胞以机械张力应激, 低氧 …

The alpha-3 subunit encoded by the CHRNA3 gene is a crucial component of ganglionic
acetylcholine receptors, which convey efferent sympathetic and parasympathetic activity to …

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