Coexistence of autosomal dominant polycystic kidney disease and neurofibromatosis: report of a family.
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.
Chen
Meng-Hao
MH
Division of Nephrology, Chang Gung Memorial Hospital, Keelung, Taiwan.
Chen
Kuo-Su
KS
Hou
Jia-Woei
JW
Lee
Ching-Chang
CC
Huang
Jen-Seng
JS
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*