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

ABSTRACT:

Background

Autosomal dominant polycystic kidney disease (ADPKD) and neurofibromatosis type 1 (NF1) are both autosomal dominant disorders with a high rate of novel mutations. However, the two disorders have distinct and well-delineated genetic, biochemical, and clinical findings. Only a few cases of coexistence of ADPKD and NF1 in a single individual have been reported, but the possible implications of this association are unknown.

Methods

We report an ADPKD male belonging to a family of several affected members in three generations associated with NF1 and optic pathway gliomas. The clinical diagnosis of ADPKD and NF1 was performed by several image techniques.

Results

Linkage analysis of ADPKD family was consistent to the PKD2 locus by a nonsense mutation, yielding a t

SUBMITTER: Peces R 

PROVIDER: S-EPMC7434601 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature