Combined liver and kidney transplantation in acute intermittent porphyria

Transpl Int. 2010 Jun;23(6):e18-21. doi: 10.1111/j.1432-2277.2009.01035.x. Epub 2009 Dec 16.

Abstract

We report two patients with acute intermittent porphyria (AIP) who were successfully treated with combined liver and kidney transplantation. Both had a very poor quality of life as a result of years of frequent acute porphyria symptoms, chronic peripheral neuropathy and renal failure requiring dialysis. After transplantation, clinical and biochemical signs of porphyria disappeared. The excretion pattern of porphyrin precursors normalized within the first day and plasma porphyrins returned to normal within a week. These and other recent cases have clarified previous concerns and have helped to formulate the indications for and the timing of transplantation in AIP.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Humans
  • Hydroxymethylbilane Synthase / blood
  • Kidney Transplantation*
  • Liver Transplantation*
  • Middle Aged
  • Porphobilinogen / blood
  • Porphyria, Acute Intermittent / surgery*
  • Treatment Outcome
  • Young Adult

Substances

  • Porphobilinogen
  • Hydroxymethylbilane Synthase