Renal Phenotype in Mitochondrial Diseases: A Multicenter Study.
Acute kidney injury
Mitochondrial DNA
Mitochondrial disease
Renal manifestations
Journal
Kidney diseases (Basel, Switzerland)
ISSN: 2296-9381
Titre abrégé: Kidney Dis (Basel)
Pays: Switzerland
ID NLM: 101658365
Informations de publication
Date de publication:
Mar 2022
Mar 2022
Historique:
received:
13
02
2021
accepted:
23
11
2021
entrez:
9
5
2022
pubmed:
10
5
2022
medline:
10
5
2022
Statut:
epublish
Résumé
This study aimed to investigate associations between renal and extrarenal manifestations of mitochondrial diseases and their natural history as well as predictors of renal disease severity and overall disease outcome. The secondary aim was to generate a protocol of presymptomatic assessment and monitoring of renal function in patients with a defined mitochondrial disease. A multicenter, retrospective cohort study was performed by the Mitochondrial Clinical and Research Network (MCRN). Patients of any age with renal manifestations associated with a genetically verified mitochondrial disease were included from 8 expert European centers specializing in mitochondrial diseases: Gothenburg, Oulu, Copenhagen, Bergen, Helsinki, Stockholm, Rotterdam, and Barcelona. Of the 36 patients included, two-thirds had mitochondrial DNA-associated disease. Renal manifestations were the first sign of mitochondrial disease in 19%, and renal involvement was first identified by laboratory tests in 57% of patients. Acute kidney injury occurred in 19% of patients and was the first sign of renal disease in the majority of these. The most common renal manifestation was chronic kidney disease (75% with stage 2 or greater), followed by tubulopathy (44.4%), the latter seen mostly among patients with single large-scale mitochondrial DNA deletions. Acute kidney injury and tubulopathy correlated with worse survival outcome. The most common findings on renal imaging were increased echogenicity and renal dysplasia/hypoplasia. Renal histology revealed focal segmental glomerulosclerosis, nephrocalcinosis, and nephronophthisis. Acute kidney injury is a distinct renal phenotype in patients with mitochondrial disease. Our results highlight the importance to recognize renal disease as a sign of an underlying mitochondrial disease. Acute kidney injury and tubulopathy are 2 distinct indicators of poor survival in patients with mitochondrial diseases.
Identifiants
pubmed: 35527992
doi: 10.1159/000521148
pii: kdd-0008-0148
pmc: PMC9021658
doi:
Types de publication
Journal Article
Langues
eng
Pagination
148-159Informations de copyright
Copyright © 2022 by S. Karger AG, Basel.
Déclaration de conflit d'intérêts
The authors have no conflicts of interest to declare.
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