The Role of Genetic Testing in the Diagnostic Workflow of Pediatric Patients with Kidney Diseases: the Experience of a Single Institution

Overview

Journal Hum Genomics

Publisher Biomed Central

Specialty Genetics

Date 2023 Feb 14

PMID 36782285

Authors

Tiziana Vaisitti

Valeria Bracciama

Angelo Corso Faini

Giulia Margherita Brach Del Prever

Martina Callegari

Silvia Kalantari

Fiorenza Mioli

Carmelo Maria Romeo

Maria Luca

Roberta Camilla

Francesca Mattozzi

Bruno Gianoglio

Licia Peruzzi

Antonio Amoroso

Silvia Deaglio

Affiliations

Soon will be listed here.

Abstract

Purpose: Inherited kidney diseases are among the leading causes of kidney failure in children, resulting in increased mortality, high healthcare costs and need for organ transplantation. Next-generation sequencing technologies can help in the diagnosis of rare monogenic conditions, allowing for optimized medical management and therapeutic choices.

Methods: Clinical exome sequencing (CES) was performed on a cohort of 191 pediatric patients from a single institution, followed by Sanger sequencing to confirm identified variants and for family segregation studies.

Results: All patients had a clinical diagnosis of kidney disease: the main disease categories were glomerular diseases (32.5%), ciliopathies (20.4%), CAKUT (17.8%), nephrolithiasis (11.5%) and tubular disease (10.5%). 7.3% of patients presented with other conditions. A conclusive genetic test, based on CES and Sanger validation, was obtained in 37.1% of patients. The highest detection rate was obtained for ciliopathies (74.4%), followed by nephrolithiasis (45.5%), tubular diseases (45%), while most glomerular diseases and CAKUT remained undiagnosed.

Conclusions: Results indicate that genetic testing consistently used in the diagnostic workflow of children with chronic kidney disease can (i) confirm clinical diagnosis, (ii) provide early diagnosis in the case of inherited conditions, (iii) find the genetic cause of previously unrecognized diseases and (iv) tailor transplantation programs.

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