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A case report of adult-onset COQ8B nephropathy presenting focal segmental glomerulosclerosis with granular swollen podocytes
BACKGROUND: Primary coenzyme Q10 (CoQ10) deficiency of genetic origin is one of a few treatable focal segmental glomerulosclerosis (FSGS). Renal morphologic evidence for COQ8B mutation and CoQ10 deficiencies of other gene mutations is assessed using electron microscopy with marked increase of abnorm...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7456044/ https://www.ncbi.nlm.nih.gov/pubmed/32859164 http://dx.doi.org/10.1186/s12882-020-02040-z |
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author | Maeoka, Yujiro Doi, Toshiki Aizawa, Masaho Miyasako, Kisho Hirashio, Shuma Masuda, Yukinari Kishita, Yoshihito Okazaki, Yasushi Murayama, Kei Imasawa, Toshiyuki Hara, Shigeo Masaki, Takao |
author_facet | Maeoka, Yujiro Doi, Toshiki Aizawa, Masaho Miyasako, Kisho Hirashio, Shuma Masuda, Yukinari Kishita, Yoshihito Okazaki, Yasushi Murayama, Kei Imasawa, Toshiyuki Hara, Shigeo Masaki, Takao |
author_sort | Maeoka, Yujiro |
collection | PubMed |
description | BACKGROUND: Primary coenzyme Q10 (CoQ10) deficiency of genetic origin is one of a few treatable focal segmental glomerulosclerosis (FSGS). Renal morphologic evidence for COQ8B mutation and CoQ10 deficiencies of other gene mutations is assessed using electron microscopy with marked increase of abnormal-shaped mitochondria in podocytes. However, light microscopic morphologic features of deficiencies other than FSGS have not been reported. CASE PRESENTATION: A 30-year-old woman was admitted to our hospital because proteinuria was found during four consecutive medical checkups. She had no medical history or family history of proteinuria and severe renal dysfunction. The swollen podocytes were stained to the same extent as mitochondria-rich proximal tubular cells under both Masson’s trichrome and hematoxylin-eosin staining, whereas no mitochondrial abnormalities were detected under the first electron microscopic views. As proteinuria and estimated glomerular filtration rate (eGFR) deteriorated after pregnancy, we reevaluated the additional electron microscopic views and detected mitochondrial abnormalities. Genetic testing revealed COQ8B mutation (c.532C > T, p.R178W); therefore, we diagnosed COQ8B nephropathy. CoQ10 supplementation improved proteinuria and stopped eGFR reduction. CONCLUSIONS: This is the first report of granular swollen podocytes due to mitochondrial diseases detected under light microscopy. We propose that this finding can be the clue for the diagnosis of both COQ8B nephropathy and the other CoQ10 deficiencies. |
format | Online Article Text |
id | pubmed-7456044 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-74560442020-08-31 A case report of adult-onset COQ8B nephropathy presenting focal segmental glomerulosclerosis with granular swollen podocytes Maeoka, Yujiro Doi, Toshiki Aizawa, Masaho Miyasako, Kisho Hirashio, Shuma Masuda, Yukinari Kishita, Yoshihito Okazaki, Yasushi Murayama, Kei Imasawa, Toshiyuki Hara, Shigeo Masaki, Takao BMC Nephrol Case Report BACKGROUND: Primary coenzyme Q10 (CoQ10) deficiency of genetic origin is one of a few treatable focal segmental glomerulosclerosis (FSGS). Renal morphologic evidence for COQ8B mutation and CoQ10 deficiencies of other gene mutations is assessed using electron microscopy with marked increase of abnormal-shaped mitochondria in podocytes. However, light microscopic morphologic features of deficiencies other than FSGS have not been reported. CASE PRESENTATION: A 30-year-old woman was admitted to our hospital because proteinuria was found during four consecutive medical checkups. She had no medical history or family history of proteinuria and severe renal dysfunction. The swollen podocytes were stained to the same extent as mitochondria-rich proximal tubular cells under both Masson’s trichrome and hematoxylin-eosin staining, whereas no mitochondrial abnormalities were detected under the first electron microscopic views. As proteinuria and estimated glomerular filtration rate (eGFR) deteriorated after pregnancy, we reevaluated the additional electron microscopic views and detected mitochondrial abnormalities. Genetic testing revealed COQ8B mutation (c.532C > T, p.R178W); therefore, we diagnosed COQ8B nephropathy. CoQ10 supplementation improved proteinuria and stopped eGFR reduction. CONCLUSIONS: This is the first report of granular swollen podocytes due to mitochondrial diseases detected under light microscopy. We propose that this finding can be the clue for the diagnosis of both COQ8B nephropathy and the other CoQ10 deficiencies. BioMed Central 2020-08-28 /pmc/articles/PMC7456044/ /pubmed/32859164 http://dx.doi.org/10.1186/s12882-020-02040-z Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Case Report Maeoka, Yujiro Doi, Toshiki Aizawa, Masaho Miyasako, Kisho Hirashio, Shuma Masuda, Yukinari Kishita, Yoshihito Okazaki, Yasushi Murayama, Kei Imasawa, Toshiyuki Hara, Shigeo Masaki, Takao A case report of adult-onset COQ8B nephropathy presenting focal segmental glomerulosclerosis with granular swollen podocytes |
title | A case report of adult-onset COQ8B nephropathy presenting focal segmental glomerulosclerosis with granular swollen podocytes |
title_full | A case report of adult-onset COQ8B nephropathy presenting focal segmental glomerulosclerosis with granular swollen podocytes |
title_fullStr | A case report of adult-onset COQ8B nephropathy presenting focal segmental glomerulosclerosis with granular swollen podocytes |
title_full_unstemmed | A case report of adult-onset COQ8B nephropathy presenting focal segmental glomerulosclerosis with granular swollen podocytes |
title_short | A case report of adult-onset COQ8B nephropathy presenting focal segmental glomerulosclerosis with granular swollen podocytes |
title_sort | case report of adult-onset coq8b nephropathy presenting focal segmental glomerulosclerosis with granular swollen podocytes |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7456044/ https://www.ncbi.nlm.nih.gov/pubmed/32859164 http://dx.doi.org/10.1186/s12882-020-02040-z |
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