The role of genetic testing in the diagnostic workflow of pediatric patients with kidney diseases: the experience of a single institution.
Hum Genomics
; 17(1): 10, 2023 02 13.
Article
en En
| MEDLINE
| ID: mdl-36782285
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.Palabras clave
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Insuficiencia Renal Crónica
/
Nefrolitiasis
/
Ciliopatías
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Límite:
Child
/
Humans
Idioma:
En
Revista:
Hum Genomics
Asunto de la revista:
GENETICA
Año:
2023
Tipo del documento:
Article
País de afiliación:
Italia