University of Oulu

Parasyri, M., Brandström, P., Uusimaa, J., Ostergaard, E., Hikmat, O., Isohanni, P., Naess, K., de Coo, I. F. M., Nascimento Osorio, A., Nuutinen, M., Lindberg, C., Bindoff, L. A., Tulinius, M., Darin, N., & Sofou, K. (2022). Renal phenotype in mitochondrial diseases: A multicenter study. Kidney Diseases, 8(2), 148–159.

Renal phenotype in mitochondrial diseases : a multicenter study

Saved in:
Author: Parasyri, Maria1; Brandström, Per1,2; Uusimaa, Johanna3,4;
Organizations: 1Department of Paediatrics, Region Västra Götaland, Sahlgrenska University Hospital, Gothenburg, Sweden
2Department of Paediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
3Department of Children and Adolescents, Oulu University Hospital, Oulu, Finland
4PEDEGO Research Unit, Research Unit for Pediatrics, Pediatric Neurology, Pediatric Surgery, Child Psychiatry, Dermatology, Clinical Genetics, Obstetrics and Gynecology, Ophthalmology, Otorhinolaryngology, Medical Research Center Oulu (MRC Oulu), University of Oulu, Oulu, Finland
5Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark
6Department of Pediatrics and Adolescent Medicine, Haukeland University Hospital, Bergen, Norway
7Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway
8Department of Pediatric Neurology, Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
9Research Programs Unit, Stem Cells and Metabolism, University of Helsinki, Helsinki, Finland
10Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden
11Department Toxicogenomics, Faculty of Health, Medicine and Life Sciences, Graduate School MHeNS, Maastricht University, Maastricht, The Netherlands
12Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Barcelona, Spain
13Department of Neurology, Neuromuscular Centre, Sahlgrenska University Hospital, Gothenburg, Sweden
14Neuro- SysMed, Center of Excellence for Clinical Research in Neurological Diseases, Haukeland University Hospital, Bergen, Norway
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 0.4 MB)
Persistent link:
Language: English
Published: Karger, 2022
Publish Date: 2022-12-01


Aims: 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.

Methods: 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.

Results: 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.

Conclusion: 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.

see all

Series: Kidney diseases
ISSN: 2296-9381
ISSN-E: 2296-9357
ISSN-L: 2296-9381
Volume: 8
Issue: 2
Pages: 148 - 159
DOI: 10.1159/000521148
Type of Publication: A1 Journal article – refereed
Field of Science: 3123 Gynaecology and paediatrics
3121 General medicine, internal medicine and other clinical medicine
Funding: This study was supported by grants from the Swedish Research Council (ALFGBG 77820).
Copyright information: © 2022 The Author(s). Published by S. Karger AG, Basel. This is an Open Access article licensed under the Creative Commons Attribution-NonCommercial-4.0 International License (CC BY-NC) ( /OpenAccessLicense), applicable to the online version of the article only. Usage and distribution for commercial purposes requires written permission.