Login / Signup

Delayed diagnoses of mitochondrial cytopathies in patients presenting with end stage kidney disease: two case reports.

Tayeba RoperMark HarberGareth JonesRobert D S PitceathlyAlan D Salama
Published in: BMC nephrology (2020)
Mitochondrial cytopathies are rare inborn errors of metabolism that should be considered in adults with renal impairment, especially in those with a family history of kidney or other multisystem disease. The widespread availability of genetic testing provides the potential for earlier diagnoses, thereby enhancing management decisions, anticipation of complications, avoidance of mitotoxic drugs, and informed prognosis prediction.
Keyphrases
  • oxidative stress
  • case report
  • human health
  • risk assessment
  • electronic health record