Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1beta in persistent cloaca and associated kidney malformations.

Objectives: 'Persistent cloaca' is a severe malformation affecting females in which the urinary, genital and alimentary tracts share a single conduit. Previously, a Uroplakin IIIA (UPIIIA) mutation was reported in one individual with persistent cloaca, and UPIIIA, Sonic Hedgehog (SHH), Ephrin B2 (EFNB2) and Hepatocyte Nuclear Factor 1beta (HNF1beta) are expressed during the normal development of organs that are affected in this condition. HNF1beta mutations have been associated with uterine malformations in humans, and mutations of genes homologous to human SHH or EFNB2 cause persistent cloaca in mice.

Surgical reconstruction of cloacal malformation can alter bladder function: a comparative study with anorectal anomalies.

Purpose: Patients with cloacal anomalies often suffer bladder dysfunction with recurrent urinary infections and incontinence. We examined the effect of surgical reconstruction by posterior sagittal approach and total urogenital mobilization in either causing or worsening bladder dysfunction.

Materials And Methods: Between August 2000 and December 2002 all new patients with cloacal anomalies were prospectively studied to assess the effect of surgical reconstruction by posterior sagittal approach and total urogenital mobilization on bladder function.