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Clinicopathologic Features of Mitochondrial Nephropathy
INTRODUCTION: The clinicopathologic characteristics of nephropathy associated with mitochondrial disease (MD) remain unknown. We retrospectively analyzed a cohort of patients with proteinuria, decreased glomerular filtration rate, or Fanconi syndrome who had a genetic mutation confirmed as the cause...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8897298/ https://www.ncbi.nlm.nih.gov/pubmed/35257070 http://dx.doi.org/10.1016/j.ekir.2021.12.028 |
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author | Imasawa, Toshiyuki Hirano, Daishi Nozu, Kandai Kitamura, Hiroshi Hattori, Motoshi Sugiyama, Hitoshi Sato, Hiroshi Murayama, Kei |
author_facet | Imasawa, Toshiyuki Hirano, Daishi Nozu, Kandai Kitamura, Hiroshi Hattori, Motoshi Sugiyama, Hitoshi Sato, Hiroshi Murayama, Kei |
author_sort | Imasawa, Toshiyuki |
collection | PubMed |
description | INTRODUCTION: The clinicopathologic characteristics of nephropathy associated with mitochondrial disease (MD) remain unknown. We retrospectively analyzed a cohort of patients with proteinuria, decreased glomerular filtration rate, or Fanconi syndrome who had a genetic mutation confirmed as the cause of MD, defined as mitochondrial nephropathy. METHODS: This nationwide survey included 757 nephrology sections throughout Japan, and consequently, data on 81 cases of mitochondrial nephropathy were collected. RESULTS: The most common renal manifestation observed during the disease course was proteinuria. Hearing loss was the most common comorbidity; a renal-limited phenotype was observed only in mitochondrial DNA (mtDNA) point mutation and COQ8B mutation cases. We found a median time delay of 6.0 years from onset of renal manifestations to diagnosis. Focal segmental glomerular sclerosis (FSGS) was the most common pathologic diagnosis. We then focused on 63 cases with the m.3243A>G mutation. The rate of cases with diabetes was significantly higher among adult-onset cases than among childhood-onset cases. Pathologic diagnoses were more variable in adult-onset cases, including diabetic nephropathy, nephrosclerosis, tubulointerstitial nephropathy, and minor glomerular abnormalities. During the median observation period of 11.0 years from the first onset of renal manifestations in patients with m.3243A>G, renal replacement therapy (RRT) was initiated in 50.8% of patients. Death occurred in 25.4% of the patients during the median observation period of 12.0 years. The median estimated glomerular filtration rate (eGFR) decline was 5.4 ml/min per 1.73 m(2)/yr in the cases, especially 8.3 ml/min per 1.73 m(2)/yr in FSGS cases, with m.3243A>G. CONCLUSION: Here, we described the clinicopathologic features and prognosis of mitochondrial nephropathy using large-scale data. |
format | Online Article Text |
id | pubmed-8897298 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-88972982022-03-06 Clinicopathologic Features of Mitochondrial Nephropathy Imasawa, Toshiyuki Hirano, Daishi Nozu, Kandai Kitamura, Hiroshi Hattori, Motoshi Sugiyama, Hitoshi Sato, Hiroshi Murayama, Kei Kidney Int Rep Clinical Research INTRODUCTION: The clinicopathologic characteristics of nephropathy associated with mitochondrial disease (MD) remain unknown. We retrospectively analyzed a cohort of patients with proteinuria, decreased glomerular filtration rate, or Fanconi syndrome who had a genetic mutation confirmed as the cause of MD, defined as mitochondrial nephropathy. METHODS: This nationwide survey included 757 nephrology sections throughout Japan, and consequently, data on 81 cases of mitochondrial nephropathy were collected. RESULTS: The most common renal manifestation observed during the disease course was proteinuria. Hearing loss was the most common comorbidity; a renal-limited phenotype was observed only in mitochondrial DNA (mtDNA) point mutation and COQ8B mutation cases. We found a median time delay of 6.0 years from onset of renal manifestations to diagnosis. Focal segmental glomerular sclerosis (FSGS) was the most common pathologic diagnosis. We then focused on 63 cases with the m.3243A>G mutation. The rate of cases with diabetes was significantly higher among adult-onset cases than among childhood-onset cases. Pathologic diagnoses were more variable in adult-onset cases, including diabetic nephropathy, nephrosclerosis, tubulointerstitial nephropathy, and minor glomerular abnormalities. During the median observation period of 11.0 years from the first onset of renal manifestations in patients with m.3243A>G, renal replacement therapy (RRT) was initiated in 50.8% of patients. Death occurred in 25.4% of the patients during the median observation period of 12.0 years. The median estimated glomerular filtration rate (eGFR) decline was 5.4 ml/min per 1.73 m(2)/yr in the cases, especially 8.3 ml/min per 1.73 m(2)/yr in FSGS cases, with m.3243A>G. CONCLUSION: Here, we described the clinicopathologic features and prognosis of mitochondrial nephropathy using large-scale data. Elsevier 2022-01-11 /pmc/articles/PMC8897298/ /pubmed/35257070 http://dx.doi.org/10.1016/j.ekir.2021.12.028 Text en © 2022 International Society of Nephrology. Published by Elsevier Inc. https://creativecommons.org/licenses/by/4.0/This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Clinical Research Imasawa, Toshiyuki Hirano, Daishi Nozu, Kandai Kitamura, Hiroshi Hattori, Motoshi Sugiyama, Hitoshi Sato, Hiroshi Murayama, Kei Clinicopathologic Features of Mitochondrial Nephropathy |
title | Clinicopathologic Features of Mitochondrial Nephropathy |
title_full | Clinicopathologic Features of Mitochondrial Nephropathy |
title_fullStr | Clinicopathologic Features of Mitochondrial Nephropathy |
title_full_unstemmed | Clinicopathologic Features of Mitochondrial Nephropathy |
title_short | Clinicopathologic Features of Mitochondrial Nephropathy |
title_sort | clinicopathologic features of mitochondrial nephropathy |
topic | Clinical Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8897298/ https://www.ncbi.nlm.nih.gov/pubmed/35257070 http://dx.doi.org/10.1016/j.ekir.2021.12.028 |
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