KIDNEY INVOLVEMENT IN MITOCHONDRIAL DISOR DERS

Mitochondrial disorders are genetic defects of oxidative phosphorylati on. Oxidative phosphorylation occurs in the mitochondrial inner membra ne and includes the oxidation of fuel molecules by oxygen and the conc omitant energy transduction into ATP. The mitochondrial respiratory ch ain is a very complicated metabolic pathway. It is made up of about 10 0 polypeptides. Most of them are encoded in the nucleus and 13 are enc oded in the mitochondria. Renal involvement in mitochondrial cytopathi es is rare and usually manifests as tubular dysfunction. However, some patients presented with nephrotic syndrome or tubulo-interstitial nep hritis, Here, we report eleven cases of children with mitochondrial cy topathy developing renal dysfunction. In some patients, we could ident ify mitochondrial DNA rearrangements (deletion, duplication), However, no correlation could be established between the clinical severity, th e enzyme deficiency and the type of mitochondrial DNA rearrangement.