Tissue is the issue: when a second biopsy reveals the true diagnosis.
collagen IV nephropathies
focal segmental glomerulosclerosis
gene expression
glomerulonephritis
Journal
Clinical kidney journal
ISSN: 2048-8505
Titre abrégé: Clin Kidney J
Pays: England
ID NLM: 101579321
Informations de publication
Date de publication:
Jan 2021
Jan 2021
Historique:
received:
30
07
2019
accepted:
22
10
2019
entrez:
10
2
2021
pubmed:
10
12
2019
medline:
10
12
2019
Statut:
epublish
Résumé
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
Identifiants
pubmed: 33564449
doi: 10.1093/ckj/sfz165
pii: sfz165
pmc: PMC7857801
doi:
Types de publication
Case Reports
Langues
eng
Pagination
429-431Informations de copyright
© The Author(s) 2019. Published by Oxford University Press on behalf of ERA-EDTA.
Références
Clin Kidney J. 2017 Oct;10(5):586-593
pubmed: 28980669
Nephron. 2015;130(4):271-80
pubmed: 26201269
J Am Soc Nephrol. 2018 Mar;29(3):759-774
pubmed: 29321142
Nephrol Dial Transplant. 2016 Jun;31(6):961-70
pubmed: 26346198
Clin Kidney J. 2018 Apr;11(2):179-190
pubmed: 29644057