Article: Genetic testing in focal segmental glomerulosclerosis: in whom and when?
2023 Volume 16, Issue 11, Page(s) 2011–2022
Abstract: Background: Genetic causes are increasingly recognized in patients with focal segmental glomerulosclerosis (FSGS), but it remains unclear which patients should undergo genetic study. Our objective was to determine the frequency and distribution of ... ...
| Abstract | Background: Genetic causes are increasingly recognized in patients with focal segmental glomerulosclerosis (FSGS), but it remains unclear which patients should undergo genetic study. Our objective was to determine the frequency and distribution of genetic variants in steroid-resistant nephrotic syndrome FSGS (SRNS-FSGS) and in FSGS of undetermined cause (FSGS-UC). Methods: We performed targeted exome sequencing of 84 genes associated with glomerulopathy in patients with adult-onset SRNS-FSGS or FSGS-UC after ruling out secondary causes. Results: Seventy-six patients met the study criteria; 24 presented with SRNS-FSGS and 52 with FSGS-UC. We detected FSGS-related disease-causing variants in 27/76 patients (35.5%). There were no differences between genetic and non-genetic causes in age, proteinuria, glomerular filtration rate, serum albumin, body mass index, hypertension, diabetes or family history. Hematuria was more prevalent among patients with genetic causes. We found 19 pathogenic variants in Conclusions: FSGS-related variants were detected in a substantial number of patients with SRNS-FSGS or FSGS-UC, regardless of age of onset of disease or the patient's family history. In our experience, genetic testing should be performed in routine clinical practice for the diagnosis of this group of patients. |
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| Language | English | |||||
| Publishing date | 2023-08-10 | |||||
| Publishing country | England | |||||
| Document type | Journal Article | |||||
| ZDB-ID | 2655800-2 | |||||
| ISSN | 2048-8513 ; 2048-8505 | |||||
| ISSN (online) | 2048-8513 | |||||
| ISSN | 2048-8505 | |||||
| DOI | 10.1093/ckj/sfad193 | |||||
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| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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