Moldavsky Moisey
Department of Pathology, Ziv Medical Center, Safed, Israel.
Isr Med Assoc J. 2009 Jan;11(1):6-10.
Renal tubular dysgenesis is a rare lethal kidney abnormality clinically manifested by olighydramnios, anuria and respiratory distress. Most of the information on this entity is provided by case reports and short series.
To evaluate the incidence and comparative frequency of clinical manifestations in different etiologic-pathogenic variants of RTD in Israel and in summarized published data.
Stillborn and neonatal autopsy material from nine medical centers in northern and central Israel was studied. Information concerning pregnancy, labor and postnatal status and autopsy findings of cases with histologically, histochemically and immunohistochemically confirmed RTD were obtained from corresponding reports and from published material.
From the 1538 autopsies of fetuses (2 20 weeks gestation) and neonates that were performed between 1976 and 2007 we identified 12 cases of RTD (0.78%). Abnormality occurred more often (1.4%) in the Upper and Western Galilee than in Israel as a whole.
Our study and a review of the literature showed that the autosomal recessive variant of RTD was more frequent than twin-twin transfusion-induced. Most symptoms were similar in all variants of RTD, but their frequency was different in each of them.
肾小管发育不全是一种罕见的致命性肾脏异常，临床表现为羊水过少、无尿和呼吸窘迫。关于该疾病的大部分信息来自病例报告和短篇系列研究。
评估以色列不同病因 - 发病机制变异型肾小管发育不全（RTD）的发病率及临床表现的相对频率，并总结已发表的数据。
对以色列北部和中部九个医疗中心的死产及新生儿尸检材料进行研究。从相应报告及已发表资料中获取有关妊娠、分娩及产后情况以及经组织学、组织化学和免疫组织化学确诊为RTD病例的尸检结果的信息。
在1976年至2007年间进行的1538例胎儿（妊娠20周）和新生儿尸检中，我们确定了12例RTD（0.78%）。上加利利和西加利利地区的异常发生率（1.4%）高于以色列整体。
我们的研究及文献综述表明，RTD的常染色体隐性变异型比双胎输血综合征所致的更为常见。RTD的所有变异型中大多数症状相似，但每种变异型中症状出现的频率有所不同。
