Kriegsmann J, Coerdt W, Kommoss F, Beetz R, Hallermann C, Müntefering H
Institute of Pathology, Johannes Gutenberg University, Mainz, Germany.
Pathol Res Pract. 2000;196(12):861-5. doi: 10.1016/s0344-0338(00)80090-4.
Renal tubular dysgenesis (RTD) is a disorder characterized by neonatal renal failure and regular gross renal architecture, although the histological features of immature and shortened proximal tubules lead to neonatal death. The pathogenesis of this condition includes a congenital familial condition, a twin-twin transfusion syndrome, and an angiotensin-converting enzyme inhibitor intake by the mother. The clinical picture shows an association with oligohydramnia, pulmonary hypoplasia, and skull ossification defects. In the present paper, we report the occurrence of RTD in three infants of a consanguinous couple and compared our data with those of the literature. Our data confirm that late second trimester demonstration of oligohydramnion, with structurally normal kidneys and with or without skull ossification defects, allows the diagnosis of renal tubular dysgenesis, which, however, has to be confirmed by histological and immunohistological examinations of the kidney.
肾小管发育不全（RTD）是一种以新生儿肾衰竭和肾脏大体结构正常为特征的疾病，尽管近端肾小管不成熟和缩短的组织学特征会导致新生儿死亡。这种疾病的发病机制包括先天性家族性疾病、双胎输血综合征以及母亲摄入血管紧张素转换酶抑制剂。临床表现为与羊水过少、肺发育不全和颅骨骨化缺陷有关。在本文中，我们报告了一对近亲夫妇的三名婴儿发生肾小管发育不全的情况，并将我们的数据与文献数据进行了比较。我们的数据证实，孕中期晚期出现羊水过少，肾脏结构正常，伴有或不伴有颅骨骨化缺陷，可诊断为肾小管发育不全，然而，这必须通过肾脏的组织学和免疫组织学检查来证实。
