de Vaux-Boitouzet V, Barau G, Blin G, Bulwa S, Engelmann P
Service de Gynécologie-Obstétrique, Hôpital Louis-Mourier, Colombes.
J Gynecol Obstet Biol Reprod (Paris). 1990;19(3):327-32.
The condition of "megacystis-microcolon" is a very rare condition which can now be diagnosed ante-natally due to ultrasound. The presence of a megacystis (large bladder) with increased levels of amniotic fluid makes it possible to eliminate other ante-natal causes of dilatation of the bladder and in particular when it is found in a female fetus (as it is in 80% of cases). At birth, one finds, apart from the massive dilatation of the bladder with very little effect on the upper urinary tract, a microcolon with complete absence of peristalsis. This last abnormality always leads to a catastrophic short term result because treatment is quite ineffective. Many histological studies have been carried out and these sometimes differ from one another but it is possible to think that the condition is due to pathology of neurogenic origin in the muscle of the bladder and the aetiology of this is unknown. Finally, because there have been a few familial cases, there may be a genetic element in this illness that has such a poor prognosis.
“巨膀胱-小结肠”症是一种极为罕见的病症，如今借助超声检查可在产前进行诊断。出现巨膀胱（膀胱增大）且羊水水平升高，有助于排除膀胱扩张的其他产前病因，尤其是当在女胎中发现此情况时（80%的病例为此种情况）。出生时，除了膀胱出现巨大扩张且对上尿路影响极小外，还会发现小结肠且完全没有蠕动。这最后一种异常情况总是导致灾难性的短期后果，因为治疗效果相当不佳。已经开展了许多组织学研究，这些研究结果有时彼此不同，但有可能认为该病症是由膀胱肌肉神经源性病变引起的，而其病因尚不清楚。最后，由于出现了一些家族性病例，这种预后极差的疾病可能存在遗传因素。
