Acute Renal Failure Secondary to an Unusual Familial Metabolic Myopathy

Nephron. 2021;145(2):199-204. doi: 10.1159/000512666. Epub 2021 Jan 8.

Abstract

Rhabdomyolysis is a major cause of acute kidney failure. The etiology is diverse, from full-blown crush syndrome to less frequent causes, such as metabolic myopathy. We describe the case of a 35-year-old male with a history of intermittent myalgias who was admitted to hospital with acute renal failure secondary to rhabdomyolysis. Moderate to intense diffuse uptake of technetium-99m was seen in soft tissues at scintigraphy. The diagnosis of metabolic myopathy was confirmed after careful workup and genetic testing.

Keywords: Acute kidney failure; Carnitine palmitoyltransferase II; Carnitine palmitoyltransferase deficiency II; Metabolic myopathy; Rhabdomyolysis.

Publication types

  • Case Reports

MeSH terms

  • Acute Kidney Injury / etiology*
  • Adult
  • Humans
  • Male
  • Muscular Diseases / complications*
  • Muscular Diseases / metabolism