Diagnosing FSGS without kidney biopsy - a novel INF2-mutation in a family with ESRD of unknown origin.

ABSTRACT:

Background

Patients on renal replacement therapy are often unaware of their underlying condition and hence suffer from so-called end-stage renal disease (ESRD) of unknown origin. However, an exact diagnosis is not only important for better estimating the prognosis, but also when preparing for kidney transplantation. Whilst patients with FSGS without a confirmed genetic cause have a high recurrence rate in the transplanted organ, patients with a mutation generally exhibit no recurrence and have a good prognosis. Furthermore, renal biopsy, which may be helpful for differential diagnosis, is usually contraindicated in end-stage kidneys. We here present the case of familial ESRD of unknown origin, which could be resolved by targeted genetic testing prior to planning of kidney transplan

SUBMITTER: Munch J 

PROVIDER: S-EPMC5062827 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature