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Renal Phenotype in Mitochondrial Diseases: A Multicenter Study

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review


  1. Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  • Maria Parasyri
  • Per Brandström
  • Johanna Uusimaa
  • Elsebet Ostergaard
  • Omar Hikmat
  • Pirjo Isohanni
  • Karin Naess
  • I F M de Coo
  • Andrés Nascimento Osorio
  • Matti Nuutinen
  • Christopher Lindberg
  • Laurence A Bindoff
  • Már Tulinius
  • Niklas Darin
  • Kalliopi Sofou
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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.

TidsskriftKidney diseases (Basel, Switzerland)
Udgave nummer2
Sider (fra-til)148-159
Antal sider12
StatusUdgivet - mar. 2022

Bibliografisk note

Copyright © 2022 by S. Karger AG, Basel.

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