[Renal tubular dysgenesis in upper and western Galilee]

Renal tubular dysgenesis (RTD) is a very rare malformation. 48 cases have been described, mostly in North America, Europe and Israel. Histopathological examination plays a key role in its diagnosis of RTD. We present the results of a retrospective study documenting the frequency, clinical manifestations and pathological findings in RTD in the Upper and Eastern Galilee. In 343 perinatal autopsies performed in Safed and Nahariya Hospitals between 1974 and 1997, there were 5 cases with RTD. All were men, 3 were Druze and 2 were Jews. The parents of the Druze patients were first cousins; 2 cases were twins of whom 1 had RTD; intrauterine growth retardation was documented in 2 and oligohydramnios in 3 cases. Life span of 4 newborns ranged from 1.1 to 49 hours and was complicated by severe respiratory failure and anuria. Ultrasound and postmortem examinations revealed no pathology of the kidney and urinary tracts. Absence of the proximal tubules was supported by immunohistochemistry for epithelial membrane antigen. Our previous assumption about the importance of lysozyme immunostaining for diagnosis of RTD was confirmed by this larger series of cases and by statistical analysis. Because RTD is considered an autosomal recessive phenotype with a recurrence rate of 25%, there should be genetic counseling of the family in every case of RTD.