Jejunal Atresia With Renal Adysplasia

Jejunal atresia (243600) occurs in several forms, one of which type IIIb ('apple peel' syndrome), most commonly shows familial occurrence. Renal adysplasia (191830) is inherited as an autosomal dominant.

Kilani et al. (1996) reported a woman with absence of the left kidney and dysplastic right kidney, who was born with type II jejunal atresia (proximal jejunal atresia). The twin offspring of this woman had similar malformations: bilateral cysts in the renal cortex and type I jejunal atresia were found in the girl, while her twin brother had type I jejunal atresia and histologically proven renal dysplasia.

This family supports the opinion that types I and II jejunal atresia have a common etiology, and confirms the variability of renal abnormalities produced by the same gene. The authors suggested that this association of abnormalities is a previously undescribed syndrome with autosomal dominant inheritance.