Article
"Bartter-like" phenotype in Kearns-Sayre syndrome.
Pediatric nephrology (Berlin, Germany) - 1 Mar 2006
Emma Francesco, Pizzini Carla, Tessa Alessandra, Di Giandomenico Silvia, Onetti-Muda Andrea, Santorelli Filippo M, Bertini Enrico, Rizzoni Gianfranco
Abstract excerpt
Kearns-Sayre syndrome (KSS) is a mitochondrial disease caused by large deletions in mitochondrial DNA (mtDNA). In most patients the disease is characterized by mtDNA heteroplasmy, where a mixture of wild-type and mutated mtDNA co-exist within cells in variable proportion, modulating the severity of the phenotype in different tissues. We report on the case of a 14-year-old child with classical symptoms of KSS and...
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