Diagnosis of Kidney Diseases of Unknown Etiology Through Biopsy-Genetic Analysis.

ABSTRACT:

Introduction

Previous studies have suggested that genetic kidney diseases in adults are often overlooked, representing up to 10% of all cases of chronic kidney disease (CKD). We present data obtained from exome sequencing (ES) analysis of patients with biopsy-proven undetermined kidney disease (UKD).

Methods

ES was proposed during routine clinical care in patients with UKD from January 2020 to December 2021. We used in silico custom kidney genes panel analysis to detect pathological variations using American College of Medical Genetics guidelines in 52 patients with biopsy-proven UKD with histological finding reassessment.

Results

We detected 12 monogenic renal disorders in 21 (40.4%) patients. The most common diagnoses were collagenopathies (8/21,38.1%), CO

SUBMITTER: Robert T 

PROVIDER: S-EPMC10577324 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature