Congenital urinary bladder outflow obstruction

Monogenic causes of congenital bladder outflow obstruction (BOO) implicate genes that function in neurons, smooth muscle, and the bladder urothelium. 

A preclinical trial of gene therapy using an adeno-associated viral vector in a mouse model of congenital BOO demonstrates that this vector can safely transduce therapeutic transgenes into bladder tissues, ameliorating neuromuscular pathology.

This provides proof-of-concept and suggests gene therapy could be used in patients with monogenic congenital BOO.

Noncoding genomic variation, epigenomic mechanisms, and environmental factors also play a role in the pathogenesis of congenital BOO, suggesting a more complex genetic cause in those without a clear monogenic cause.

https://www.cell.com/trends/molecular-medicine/fulltext/S1471-4914(25)00218-7

https://sciencemission.com/biology-of-congenital-urinary-BOO