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MELAS Syndrome and Kidney Disease Without Fanconi Syndrome or Proteinuria: A Case Report.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Dec 2016

Rudnicki Michael, Mayr Johannes A, Zschocke Johannes, Antretter Herwig, Regele Heinz, Feichtinger René G, Windpessl Martin, Mayer Gert, Pölzl Gerhard

Abstract excerpt

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS syndrome) represents one of the most frequent mitochondrial disorders. The majority of MELAS cases are caused by m.3243A>G mutation in the mitochondrial MT-TL1 gene, which encodes the mitochondrial tRNALeu(UUR). Kidney involvement usually manifests as Fanconi syndrome or focal segmental glomerulosclerosis. We describe a patient with...

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PMID: 27683045
DOI: 10.1053/j.ajkd.2016.06.027

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