CFTR Variants and Renal Abnormalities in Males With Congenital Unilateral Absence of the Vas Deferens (CUAVD): A Systematic Review and Meta-analysis of Observational Studies

摘要

Congenital absence of the vas deferens (CAVD) is a urological disease classified into 3 subtypes: congenital bilateral absence of the vas deferens (CBAVD), congenital unilateral absence of the vas deferens (CUAVD), and congenital bilateral partial aplasia of the vas deferens. Themost common subtype is CBAVD (prevalence of 1%-2%), but CUAVD (prevalence of 0.5%-1.0%) alsomay be discovered during evaluations for infertility or surgical procedures involving male genitalia. Cystic fibrosis transmembrane conductance regulator (CFTR) variants cause cystic fibrosis (CF) and have been found to play an important role in CUAVD development. Researchers sought to uncover the genetic link between CFTR variants, CUAVD, and renal abnormality (RA)-associated risk.