The use of electron microscopy in the diagnosis of focal segmental glomerulosclerosis: are current pathological techniques missing important abnormalities in the glomerular basement membrane? [version 2; peer review: 2 approved]
Background: There is an increasing appreciation that variants of the COL4A genes may be associated with the development of focal segmental glomerulosclerosis (FSGS). On electron microscopy, such variants may produce characteristic changes within the glomerular basement membrane (GBM). These changes...
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| Format: | Article |
| Language: | English |
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F1000 Research Ltd
2019-11-01
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| Series: | F1000Research |
| Online Access: | https://f1000research.com/articles/8-1204/v2 |
| _version_ | 1818454743089938432 |
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| author | Justin Davis Alwie Tjipto Katharine Hegerty Andrew Mallett |
| author_facet | Justin Davis Alwie Tjipto Katharine Hegerty Andrew Mallett |
| author_sort | Justin Davis |
| collection | DOAJ |
| description | Background: There is an increasing appreciation that variants of the COL4A genes may be associated with the development of focal segmental glomerulosclerosis (FSGS). On electron microscopy, such variants may produce characteristic changes within the glomerular basement membrane (GBM). These changes may be missed if glomerular lesions histologically diagnosed as FSGS on light microscopy are not subjected to electron microscopy. Methods: We conducted a retrospective cohort analysis of all patients presenting to two hospitals who received a primary histological diagnosis of FSGS to see if these samples underwent subsequent electron microscopy. Each such sample was also scrutinised for the presence of characteristic changes of an underlying type IV collagen disorder Results: A total of 43 patients were identified. Of these, only 30 underwent electron microscopy. In two samples there were histological changes detected that might have suggested the underlying presence of a type IV collagen disorder. Around one in three biopsy samples that had a histological diagnosis of FSGS were not subjected to electron microscopy. Conclusion: Renal biopsy samples that have a histological diagnosis of primary FSGS not subjected to subsequent electron microscopy may potentially miss ultrastructural changes in the GBM that could signify an underlying type IV collagen disorder as the patient’s underlying disease process. This could potentially affect both them and their families’ investigative and management decisions given potential for implications for transplant, heritability and different disease pathogenesis. This represents a gap in care which should be reflected upon and rectified via iterative standard care and unit-level quality assurance initiatives. |
| first_indexed | 2024-12-14T21:59:44Z |
| format | Article |
| id | doaj.art-55a11a2641434299929a2d9815792d62 |
| institution | Directory Open Access Journal |
| issn | 2046-1402 |
| language | English |
| last_indexed | 2024-12-14T21:59:44Z |
| publishDate | 2019-11-01 |
| publisher | F1000 Research Ltd |
| record_format | Article |
| series | F1000Research |
| spelling | doaj.art-55a11a2641434299929a2d9815792d622022-12-21T22:46:02ZengF1000 Research LtdF1000Research2046-14022019-11-01810.12688/f1000research.19997.223359The use of electron microscopy in the diagnosis of focal segmental glomerulosclerosis: are current pathological techniques missing important abnormalities in the glomerular basement membrane? [version 2; peer review: 2 approved]Justin Davis0Alwie Tjipto1Katharine Hegerty2Andrew Mallett3Department of Nephrology, Barwon Health, Geelong, Victoria, 3220, AustraliaDepartment of Nephrology, Barwon Health, Geelong, Victoria, 3220, AustraliaDepartment of Nephrology, Royal Brisbane and Women's Hospital, Herston, Queensland, AustraliaDepartment of Nephrology, Royal Brisbane and Women's Hospital, Herston, Queensland, AustraliaBackground: There is an increasing appreciation that variants of the COL4A genes may be associated with the development of focal segmental glomerulosclerosis (FSGS). On electron microscopy, such variants may produce characteristic changes within the glomerular basement membrane (GBM). These changes may be missed if glomerular lesions histologically diagnosed as FSGS on light microscopy are not subjected to electron microscopy. Methods: We conducted a retrospective cohort analysis of all patients presenting to two hospitals who received a primary histological diagnosis of FSGS to see if these samples underwent subsequent electron microscopy. Each such sample was also scrutinised for the presence of characteristic changes of an underlying type IV collagen disorder Results: A total of 43 patients were identified. Of these, only 30 underwent electron microscopy. In two samples there were histological changes detected that might have suggested the underlying presence of a type IV collagen disorder. Around one in three biopsy samples that had a histological diagnosis of FSGS were not subjected to electron microscopy. Conclusion: Renal biopsy samples that have a histological diagnosis of primary FSGS not subjected to subsequent electron microscopy may potentially miss ultrastructural changes in the GBM that could signify an underlying type IV collagen disorder as the patient’s underlying disease process. This could potentially affect both them and their families’ investigative and management decisions given potential for implications for transplant, heritability and different disease pathogenesis. This represents a gap in care which should be reflected upon and rectified via iterative standard care and unit-level quality assurance initiatives.https://f1000research.com/articles/8-1204/v2 |
| spellingShingle | Justin Davis Alwie Tjipto Katharine Hegerty Andrew Mallett The use of electron microscopy in the diagnosis of focal segmental glomerulosclerosis: are current pathological techniques missing important abnormalities in the glomerular basement membrane? [version 2; peer review: 2 approved] F1000Research |
| title | The use of electron microscopy in the diagnosis of focal segmental glomerulosclerosis: are current pathological techniques missing important abnormalities in the glomerular basement membrane? [version 2; peer review: 2 approved] |
| title_full | The use of electron microscopy in the diagnosis of focal segmental glomerulosclerosis: are current pathological techniques missing important abnormalities in the glomerular basement membrane? [version 2; peer review: 2 approved] |
| title_fullStr | The use of electron microscopy in the diagnosis of focal segmental glomerulosclerosis: are current pathological techniques missing important abnormalities in the glomerular basement membrane? [version 2; peer review: 2 approved] |
| title_full_unstemmed | The use of electron microscopy in the diagnosis of focal segmental glomerulosclerosis: are current pathological techniques missing important abnormalities in the glomerular basement membrane? [version 2; peer review: 2 approved] |
| title_short | The use of electron microscopy in the diagnosis of focal segmental glomerulosclerosis: are current pathological techniques missing important abnormalities in the glomerular basement membrane? [version 2; peer review: 2 approved] |
| title_sort | use of electron microscopy in the diagnosis of focal segmental glomerulosclerosis are current pathological techniques missing important abnormalities in the glomerular basement membrane version 2 peer review 2 approved |
| url | https://f1000research.com/articles/8-1204/v2 |
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