1. Tissue is the issue: when a second biopsy reveals the true diagnosis.
- Author
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Bogaert, Anne-Marie, Hoorens, Anne, Praet, Marleen, Dorpe, Jo Van, Poppe, Bruce, and Scheerder, Marie-Angélique De
- Subjects
DIAGNOSIS ,FOCAL segmental glomerulosclerosis ,RENAL biopsy ,GENETIC testing ,BIOPSY ,NUCLEOTIDE sequencing - 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]
- Published
- 2021
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