Siebert J R, Benjamin D R, Juul S, Glick P L
Department of Laboratories, Children's Hospital and Medical Center, Seattle, WA 98105.
Am J Med Genet. 1990 Sep;37(1):1-5. doi: 10.1002/ajmg.1320370102.
Anomalies of the urinary tract occur in some 13-27% of infants with congenital posterolateral diaphragmatic defect (CDD) and are often severe (renal agenesis, dysplasia, hypoplasia, or hydronephrosis). To test the hypothesis that urinary and diaphragmatic anomalies share elements of pathogenesis, we reviewed 60 autopsy cases of CDD studied at our institution. Sixteen patients (27%) manifested anomalies of the urinary tract: 12 had markedly altered kidneys, 8 of which were unilateral and ipsilateral to the diaphragmatic defect. Among 27 patients free of gross urinary tract anomalies, kidney weights formed a skewed distribution, with most values above published norms for body weight; by analysis of covariance, kidney weight (as a function of body weight) was significantly greater in CDD than in a control population of infants free of chronic illnesses and congenital anomalies who died suddenly and unexpectedly. Differences in glomerular number and diameter could not be identified between the latter groups. In 71% of patients with isolated left CDD, the left kidney was heavier than the right, a reversal of the usual condition in infancy. These findings demonstrate that both marked and subtle changes of the urinary tract in CDD are generally ipsilateral to the diaphragmatic defect and suggest that the pathogenetic mechanisms responsible for urinary and diaphragmatic anomalies may overlap topographically. Aberrant morphogenesis within a developmental field or fields is one explanation for this.
先天性后外侧膈疝（CDD）患儿中约13% - 27%存在泌尿系统异常，且往往较为严重（肾缺如、发育异常、发育不全或肾积水）。为验证泌尿系统和膈疝异常在发病机制上存在共同因素这一假说，我们回顾了本机构研究的60例CDD尸检病例。16例患者（27%）出现泌尿系统异常：12例肾脏有明显改变，其中8例为单侧且与膈疝同侧。在27例无明显泌尿系统异常的患者中，肾脏重量呈偏态分布，多数值高于已公布的体重相关标准；通过协方差分析，CDD患者的肾脏重量（作为体重的函数）显著高于因突发意外死亡且无慢性疾病和先天性异常的婴儿对照组。后两组之间未发现肾小球数量和直径的差异。在71%的孤立性左侧CDD患者中，左肾比右肾重，这与婴儿期的正常情况相反。这些发现表明，CDD患者泌尿系统的明显和细微变化通常与膈疝同侧，提示导致泌尿系统和膈疝异常的发病机制在局部可能存在重叠。发育区域内的异常形态发生是对此的一种解释。
