Translational research for pediatric lower urinary tract dysfunction

Abstract

This review provides a comprehensive view of translational research aimed at elucidating the pathophysiology of pediatric lower urinary tract dysfunction (LUTD). A web search was conducted according to combinations of keywords, and the significance of each article was defined by the author. The dramatic evolution of the mass analysis method of genomes, transcripts, and proteins has enabled a comprehensive analysis of molecular events underlying diseases, and these methodologies have also been applied to pediatric LUTD. In genetic analyses of syndromes underlying daytime incontinence, urofacial (Ochoa) syndrome may be creating a prototype of a new research approach. Nocturnal enuresis has long been studied genetically, and several candidate loci have been reported. However, the pursuit for enuresis genes has been abandoned partly because genetic association and enuresis phenotype (bladder or renal type) could not be linked. Enuresis associated with diabetes insipidus has provided new insights into the etiology of the diseases. A chronobiological approach may shed new light on this area. Posterior urethral valves and neurogenic bladders have attracted the interest of pediatric urologists to the smooth muscle biology of the bladder. Bladder exstrophy and cloacal anomalies are rare but major anomalies caused by defective urorectal development and have recently been studied from a genetic standpoint. Translational studies for pediatric LUTD may be extended to adult bladder disease, or to application of precision medicine for diseased children.