Late onset variants in Fabry disease: Results in high risk population screenings in Argentina.

ABSTRACT:

Background

Screening for Fabry disease (FD) in high risk populations yields a significant number of individuals with novel, ultra rare genetic variants in the GLA gene, largely without classic manifestations of FD. These variants often have significant residual α-galactosidase A activity. The establishment of the pathogenic character of previously unknown or rare variants is challenging but necessary to guide therapeutic decisions.

Objectives

To present 2 cases of non-classical presentations of FD with renal involvement as well as to discuss the importance of high risk population screenings for FD.

Results

Our patients with non-classical variants were diagnosed through FD screenings in dialysis units. However, organ damage was not limited to kidneys, since LVH, verteb

SUBMITTER: Serebrinsky G 

PROVIDER: S-EPMC4750630 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature