DELETION OF MITOCHONDRIAL-DNA IN PATIENT WITH CHRONIC TUBULOINTERSTITIAL NEPHRITIS

We report a mitochondrial DNA deletion (2.6 kb) in a boy with tubuloin terstitial nephritis in whom chronic renal failure and leukodystrophy subsequently developed. Elevated lactate values in plasma and cerebros pinal fluid were suggestive of a defect in the mitochondrial respirato ry chain. High amounts of deleted mitochondrial DNA were present in mu scle and cerebral white matter. On the basis of this observation, we s uggest giving consideration to genetic defects of oxidative phosphoryl ation in any attempt to determine the origin of unexplained chronic tu bulointerstitial nephritis, especially when seemingly unrelated organs are involved.