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Tissue is the issue: when a second biopsy reveals the true diagnosis.
- Source :
- Clinical Kidney Journal; Jan2021, Vol. 14, p429-431, 3p
- Publication Year :
- 2021
-
Abstract
- We describe the case of a woman with minimal glomerular changes on initial kidney biopsy. On long-term follow-up, the patient developed nephrotic proteinuria and a second kidney biopsy was performed, which revealed focal segmental glomerulosclerosis (FSGS). Findings from electron microscopy (EM) examination suggested a genetic form of FSGS. Next-generation sequencing showed heterozygosity for a mutation in COL4A3. Collagen IV nephropathies can be linked to late-onset FSGS. By establishing a genetic cause of FSGS, immunosuppressive treatment can be avoided. This case emphasizes the importance of re-biopsy in cases of a non-explained rise in proteinuria. EM can be helpful in differentiating between primary and secondary FSGS and informing treatment strategies. In cases of adult-onset FSGS that cannot be categorized by clinical–pathological assessment, genetic testing should be considered. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 20488505
- Volume :
- 14
- Database :
- Complementary Index
- Journal :
- Clinical Kidney Journal
- Publication Type :
- Academic Journal
- Accession number :
- 148595786
- Full Text :
- https://doi.org/10.1093/ckj/sfz165