Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritis

• Published in: The Journal of pediatrics 1995-04, Vol.126 (4), p.597-601
• Main Authors: Rötig, Agnès, Goutières, Françoise, Niaudet, Patrick, Rustin, Pierre, Chretien, Dominique, Guest, Geneviève, Mikol, Jacqueline, Gubler, Marie-Claire, Munnich, Arnold
• Format: Article
• Language: English
• Subjects: Base Sequence; Biological and medical sciences; Brain - enzymology; Brain - pathology; Canavan Disease - complications; Canavan Disease - diagnosis; Canavan Disease - genetics; Canavan Disease - pathology; Child; Chronic Disease; DNA, Mitochondrial - analysis; Electron Transport - physiology; Gene Deletion; Humans; Kidney Failure, Chronic - etiology; Male; Medical sciences; Molecular Sequence Data; Muscle, Skeletal - enzymology; Muscle, Skeletal - pathology; Nephritis, Interstitial - complications; Nephritis, Interstitial - etiology; Nephritis, Interstitial - pathology; Nephrology. Urinary tract diseases; Nephropathies. Renovascular diseases. Renal failure; Tubulopathies
• ISSN: 0022-3476; 1097-6833
• DOI: 10.1016/S0022-3476(95)70359-4

We report a mitochondrial DNA deletion (2.6 kb) in a boy with tubulointerstitial nephritis in whom chronic renal failure and leukodystrophy subsequently developed. Elevated lactate values in plasma and cerebrospinal fluid were suggestive of a defect in the mitochondrial respiratory chain. High amounts of deleted mitochondrial DNA were present in muscle and cerebral white matter. On the basis of this observation, we suggest giving consideration to genetic defects of oxidative phosphorylation in any attempt to determine the origin of unexplained chronic tubulointerstitial nephritis, especially when seemingly unrelated organs are involved. ( J PEDIATR 1995;126:597-601)