Genetic testing in pediatric kidney transplant recipients to promote informed choice and improve individualized monitoring.

ABSTRACT:

Background

The growing body of research on kidney disease in children has identified a broad spectrum of genetic etiologies.

Methods

We conducted a prospective study to evaluate the efficacy of an optimized genetic test and subclinical changes in a real-world context before kidney transplantation. All cases involved recipients under the age of 18 who underwent whole exome sequencing (ES) between 2013 and 2022.

Results

The study population included 244 children, with a median age of 13.1 years at transplantation. ES provided a molecular genetic diagnosis in 114 (46.7%) probands with monogenic variants in 15 known disease-causing genes. ES confirmed the suspected clinical diagnosis in 74/244 (30.3%) cases and revised the pre-exome clinical diagnoses in 40/244 (16.4%) ca

SUBMITTER: Feng Y 

PROVIDER: S-EPMC11448020 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature