The current profile of persistent cloaca and cloacal exstrophy in Japan: the results of a nationwide survey in 2014 and a review of the literature

Masayuki Kubota

doi:10.1007/s00383-016-4053-4

Abstract

PurposeThe current profile of persistent cloaca (PC) and cloacal exstrophy (CE) in Japan was first examined in 2014.Materials and methodsInformation was obtained by sending a questionnaire to 244 university hospitals and children’s hospitals.ResultsResponses from 113 institutions reported 466 PC cases and 229 CE cases. The incidences of PC and CE from 1980 to 2012 were 0.97 and 0.49 per 100,000 live births, respectively. In the previous 5 years, antenatal abnormalities were found in 57.6% of PC and 72.7% of CE patients. Myelomeningocele was observed in 45.6% of CE patients. As a result of various surgical treatments used in the neonatal and infantile periods, the respective rates of bladder dysfunction, clean intermittent catheterization, and permanent enterostomy were 32.6, 22.5, and 7.3% in PC patients and 60.7, 28.4, and 73.8% in CE patients. Menstrual outflow obstruction was found in 22.5% of PC and 48.9% of CE patients with menstruation.ConclusionThe clinical outcomes of PC and CE remain unsatisfactory. Therefore, the establishment of treatment guidelines might be a useful objective for improving the current status of PC and CE.

Highlights

Persistent cloaca (PC) and cloacal exstrophy (CE) are extremely rare congenital anomalies of the anorectum and urogenital tract
Major events that cause the failure of the anterior abdominal wall closure can disturb the neural tube formation, which might be a reason for the strong association with myelomenigocele in CE patients [2]
A comparative study of PC and CE patients may be useful for clarifying the characteristics of both diseases

Summary

Introduction

Persistent cloaca (PC) and cloacal exstrophy (CE) are extremely rare congenital anomalies of the anorectum and urogenital tract. CE is the most severe form of cloaca-related anomaly and it occurs in both sexes; it is characterized by a failure of lower abdominal wall closure, resulting in exstrophy of the intestines and urinary and genital organs. These two diseases are usually associated with multiple anomalies of other organs, which affect the treatment outcome considerably. Because the functional outcomes of surgical treatment of the reproductive system in infancy will become obvious in puberty, these patients need meticulous care from childhood to adulthood. To perform suitable life-long care in these patients, treatment guidelines must be established. Basic information regarding PC and CE in the perinatal period, such as the incidence, rate of antenatal diagnosis, and mode of delivery, are unavailable, due to the lack of a nationwide survey of these two diseases

Methods

Results

Conclusion