Mitochondriopathies



Mitochondriopathies


Surya V. Seshan, MD










Renal tubules show prominent eosinophilic tubular inclusions indicating giant mitochondria image in 9-year-old girl with Fanconi syndrome, opaque cornea, and deafness (traits suggestive of inherited mitochondrial defect).






EM of renal tubule shows increased dysmorphic mitochondria with crowding, irregular size and shape image, and varied loss of cristae in a patient treated with Viramune, a reverse transcriptase inhibitor.


TERMINOLOGY


Abbreviations



  • Mitochondriopathies (MCP)


Definitions



  • Genetic defect of oxidative phosphorylation due to deficiency of one of the mitochondrial respiratory chain complexes; also acquired form due to drug toxicity (e.g., Viramune)


ETIOLOGY/PATHOGENESIS


Genetic

Jul 7, 2016 | Posted by in PATHOLOGY & LABORATORY MEDICINE | Comments Off on Mitochondriopathies
Premium Wordpress Themes by UFO Themes
%d bloggers like this: