The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation.
Genet Med
; 23(7): 1219-1224, 2021 07.
Article
in En
| MEDLINE
| ID: mdl-33712733
ABSTRACT
PURPOSE:
Chronic kidney disease (CKD) is a major health-care burden. Increasing evidence suggests that a considerable proportion of patients are affected by a monogenic kidney disorder.METHODS:
In this study, the kidney transplantation waiting list at the Charité was screened for patients with undetermined cause of CKD. By next-generation sequencing (NGS) we targeted all 600 genes described and associated with kidney disease or allied disorders.RESULTS:
In total, 635 patients were investigated. Of these, 245 individuals had a known cause of CKD (38.5%) of which 119 had a proven genetic disease (e.g., ADPKD, Alport). The other 340 patients (53.5%) were classified as undetermined diagnosis, of whom 87 had kidney failure (KF) onset <40 years. To this latter group genetic testing was offered as well as to those patients (n = 29) with focal segmental glomerulosclerosis (FSGS) and all individuals (n = 21) suspicious for thrombotic microangiopathy (TMA) in kidney biopsy. We detected diagnostic variants in 26 of 126 patients (20.6%) of which 14 of 126 (11.1%) were pathogenic or likely pathogenic. In another 12 of 126 (9.5%) patients, variants of unknown significance (VUS) were detected.CONCLUSION:
Our study demonstrates the diagnostic value of comprehensive genetic testing among patients with undetermined CKD.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Glomerulosclerosis, Focal Segmental
/
Kidney Transplantation
/
Polycystic Kidney, Autosomal Dominant
/
Renal Insufficiency, Chronic
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Adult
/
Humans
Language:
En
Journal:
Genet Med
Year:
2021
Document type:
Article