RENAL-FAILURE FROM MITOCHONDRIAL CYTOPATHIES

Mitochondrial cytopathies are metabolic diseases, expressing mutations in nuclear DNA, punctiform mutations or depletions in mitochondrial D NA. These genetic lesions alter mitochondrial oxidative phosphorylatio n, with a reduction in energy produced for cell activity. Renal diseas e may be the first sign of mitochondrial cytopathy, or it may appear t ogether with neurological and neuromuscular signs. Fanconi's syndrome, a benign sign of renal tubulopathy, is particularly frequent in newbo rns with mitochondrial cytopathy, whereas tubulointerstitial nephropat hy, which affects infants and adults, is more serious because it devel ops into terminal uremia. Findings of hyperlactatemia and reduced enzy matic activity on the respiratory chain in tissue biopsies are of diag nostic significance in mitochondrial cytopathy. A breakthrough is bein g made in our understanding of genetic alterations in mitochondrial DN A, and with future therapy, the kidney, a target organ, may be safegua rded.