The renal lesion in syndromes of multiple congenital malformations. Cerebrohepatorenal syndrome; Jeune asphyxiating thoracic dystrophy; tuberous sclerosis; Meckel syndrome.

Abstract

Renal malformations in cerebrohepatorenal and the Jeune syndromes are variable, encompassing both focal cystic change and severe cystic dysplasia. Morphologic differences might reflect either genetic heterogeneity or injury to the kidney by an underlying metabolic defect at differing times in renal development. The renal lesion in the Meckel syndrome is cystic dysplasia with markedly defective nephronic differentiation. A histologically distinctive cystic tubular lesion is identified in tuberous sclerosis. These lesions must be differentiated from infantile and adult polycystic disease.