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A Journal on Internal Medicine
Indexed/Abstracted in: BIOSIS Previews, Current Contents/Clinical Medicine, EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
Impact Factor 1,6
Panminerva Medica 2001 September;43(3):211-4
Kearns-Sayre syndrome associated with de Toni-Debré-Fanconi syndrome due to cytochrome-c-oxidase (COX) deficiency
Berio A., Piazzi A.
From the Pediatric Chair, Department of Pediatrics University of Genoa, Genoa, Italy
We report a 43-year-old female with complete Kearns-Sayre syndrome, focal deficiency of cytochrome-c-oxidase (COX) and extensive deletion of the mtDNA in muscle fibers, which showed progressive insufficiency of the renal tubule: first hyperphosphaturia and hyperaminoaciduria and, later, also glucosuria (de Toni-Debré-Fanconi syndrome), a syndrome to date rarely diagnosed in association with complete Kearns-Sayre syndrome. In our opinion, this case, in view of the relationships between retinal and kidney disorders, suggests a search for de Toni-Debré-Fanconi syndrome in all patients with Kearns-Sayre syndrome also by quantitative and chromatographic methods for the assessment of aminoacids, phosphates and sugars in the urine.