title: 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.
authors.affiliation: Division of Nephrology, Chang Gung Memorial Hospital, Keelung, Taiwan.
authors.forename: Meng-Hao
authors.initials: MH
authors.lastname: Chen
authors.forename: Kuo-Su
authors.initials: KS
authors.lastname: Chen
authors.forename: Jia-Woei
authors.initials: JW
authors.lastname: Hou
authors.forename: Ching-Chang
authors.initials: CC
authors.lastname: Lee
authors.forename: Jen-Seng
authors.initials: JS
authors.lastname: Huang
mesh_terms: D019080:Cafe-au-Lait Spots / Q000209:etiology / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D017253:Neurofibromatoses / Q000150:complications* / Q000235:genetics*; D010375:Pedigree; D016891:Polycystic Kidney, Autosomal Dominant / Q000150:complications* / Q000235:genetics*