Background: 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.
Objectives: To evaluate the incidence and comparative frequency of clinical manifestations in different etiologic-pathogenic variants of RTD in Israel and in summarized published data.
Methods: 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.
Results: 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.
Conclusions: 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.