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.

Co‐occurrence of neurofibromatosis type 1 and optic nerve gliomas with autosomal dominant polycystic kidney disease type 2

“…Therefore, occurrence of both, ADPKD and NF1, in a single individual is very rare. In fact, only six patients have been reported in the literature (Chen et al., 2002; Flego et al., 2003; Siegelman et al., 1971; Varma et al, 1982; Table 1). Chen et al (2002) thought that the co‐occurrence of these two disorders together, in three members of a family, was due a de novo mutation in NF1 gene that occurred in the ADPKD mother who transmitted both diseases to her two sons.…”

“…In fact, only six patients have been reported in the literature (Chen et al, 2002;Flego et al, 2003;Siegelman et al, 1971;Varma et al, 1982; Table 1). Chen et al (2002) thought that the co-occurrence of these two disorders together, in three members of a family, was due a de novo mutation in NF1 gene that occurred in the ADPKD mother who transmitted both diseases to her two sons. Flego et al (2003) reported a patient who inherited NF1 and ADPKD from his mother and father, respectively.…”

“…However, co‐occurrence of these two diseases (ADPKD and NF1) in a single individual is extremely rare. To the best of our knowledge, only a few cases have been reported in the literature (Table 1; Chen, Chen, Hou, Lee, & Huang, 2002; Flego et al., 2003; Niemczyk et al., 2010; Siegelman, Zavod, & Hecht, 1971; Varma, Talwar, Kushik, & Sharma, 1982). In only one of these cases, there was inheritance of one condition, ADPKD, and sporadic case and de novo mutation of the other, at NF1, was assumed (Chen et al., 2002).…”

“…To the best of our knowledge, only a few cases have been reported in the literature (Table 1; Chen, Chen, Hou, Lee, & Huang, 2002; Flego et al., 2003; Niemczyk et al., 2010; Siegelman, Zavod, & Hecht, 1971; Varma, Talwar, Kushik, & Sharma, 1982). In only one of these cases, there was inheritance of one condition, ADPKD, and sporadic case and de novo mutation of the other, at NF1, was assumed (Chen et al., 2002). However, an association of NF1 with optic pathway gliomas and ADPKD confirmed by molecular genetic analysis of the two genes has not been previously described.…”