Case Report: Making a diagnosis of familial renal disease - clinical and patient perspectives.

ABSTRACT:

Background

A precise molecular genetic diagnosis has become the gold standard for the correct identification and management of many inherited renal diseases.

Methods

Here we describe a family with familial focal segmental glomerulosclerosis, and include a clinical and patient perspective on the diagnostic workup and relaying of genetic results following whole exome sequencing.

Results

Through next generation sequencing approaches, we identified a pathogenic mutation in TRPC6, the underlying cause of the phenotype. The identification of this mutation had important clinical consequences for the family, including allowing a living-unrelated kidney transplant to proceed in the index case. There are also wider ranging social and ethical dilemmas presented when reach

SUBMITTER: Iqbal Z 

PROVIDER: S-EPMC5443337 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature