Loendersloot E W, Verjaal M, Leschot N J
Eur J Obstet Gynecol Reprod Biol. 1978 Jun;8(3):137-42. doi: 10.1016/0028-2243(78)90063-1.
Bilateral renal agenesis is a relatively rare congenital anomaly; its frequency is 1 : 3000-4000 deliveries, with a remarkable predominance of male infants. This anomaly is most often found in combination with characteristic facial features ('Potter's face') and pulmonary hypoplasia, the combination being known as Potter's syndrome. In the course of pregnancy an increasing oligohydramnios becomes manifest; during labor, virtual absence of amniotic fluid is found in most cases. This oligohydramnios should alert the obstetrician to suspect Potter's syndrome; serial ultrasonography may confirm the diagnosis. Most affected children are born alive but die within a few hours due to respiratory difficulties caused by the pulmonary hypoplasia. Despite the remarkable facial characteristics of these infants, it was only in a small minority that the diagnosis was considered before autopsy. This stresses the need for a full post-mortem examination in all cases of perinatal death. The etiology is still uncertain, though multifactorial inheritance is the most likely. As a consequence, the recurrence risk is not negligible; the small number of 'familial occurrence' observations, however, does not allow estimation of a risk figure. Genetic counseling is indicated in any family giving birth to a child with bilateral renal agenesis. A family is described in which two consecutive male infants with bilateral renal agenesis were born alive and survived 19 and 38 h.
双侧肾缺如是一种相对罕见的先天性异常；其发生率为1:3000 - 4000次分娩，男婴明显居多。这种异常最常与特征性面部特征（“波特面容”）和肺发育不全同时出现，这种组合被称为波特综合征。在孕期过程中，羊水过少会逐渐显现；在分娩时，大多数情况下会发现几乎没有羊水。这种羊水过少应提醒产科医生怀疑波特综合征；连续超声检查可能会确诊。大多数受影响的婴儿出生时是活的，但由于肺发育不全导致的呼吸困难，会在数小时内死亡。尽管这些婴儿有明显的面部特征，但只有少数在尸检前被考虑到诊断。这强调了在所有围产期死亡病例中进行全面尸检的必要性。病因仍不确定，尽管多因素遗传是最有可能的。因此，复发风险不可忽视；然而，“家族性发生”的观察病例数量较少，无法估计风险数值。任何生育了双侧肾缺如患儿的家庭都需要进行遗传咨询。本文描述了一个家庭，该家庭连续出生的两名男婴患有双侧肾缺如，出生时存活，分别存活了19小时和38小时。
