Initial experience from a renal genetics clinic demonstrates a distinct role in patient management.

ABSTRACT:

Purpose

A Renal Genetics Clinic (RGC) was established to optimize diagnostic testing, facilitate genetic counseling, and direct clinical management.

Methods

Retrospective review of patients seen over a two-year period in the RGC.

Results

One hundred eleven patients (mean age: 39.9 years) were referred to the RGC: 65 for genetic evaluation, 19 for management of a known genetic disease, and 18 healthy living kidney donors (LKDs) and their 9 related transplant candidates for screening. Forty-three patients underwent genetic testing with a diagnosis in 60% of patients including 9 with Alport syndrome, 7 with autosomal dominant polycystic kidney disease (ADPKD), 2 with genetic focal segmental glomerulosclerosis (FSGS), 2 with PAX2-mediated CAKUT, and 1 each with autosomal

SUBMITTER: Thomas CP 

PROVIDER: S-EPMC7272321 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature