Coexistence of autosomal dominant polycystic kidney disease and neurofibromatosis: report of a family

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) and neurofibromatosis are both autosomal dominant heredofamilial disorders. Concurrence of these two diseases is very rare. Herein, we report the coexistence of neurofibromatosis in 3 members, a mother and her 2 sons, of a family with preexisting ADPKD. The chromosomal studies of these patients show no translocation, deletion, or other gross abnormality. It is possible that a mutated neurofibromatosis gene developed in the ADPKD mother with subsequent inherence of both ADPKD and NF genes in her 2 sons.