4 years ago

Case Report: Making a diagnosis of familial renal disease – clinical and patient perspectives [version 1; referees: 2 approved]

Zahra Iqbal, John A. Sayer
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 reaching a genetic diagnosis like this one, which are explored here by both physicians and the index case. Conclusions: Through physician and patient perspectives in a family with inherited renal failure we explore the implications and the magnitude of a molecular genetic diagnosis.

Publisher URL: https://f1000research.com/articles/6-470/v1

DOI: 10.12688/f1000research.11316.1

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