Kidney transplantation improves the clinical outcomes of Acute Intermittent Porphyria.

Abstract

BACKGROUND:

Acute Intermittent Porphyria (AIP) is a rare inherited autosomal dominant disorder of heme biosynthesis. Porphyria-associated kidney disease occurs in more than 50% of the patients with AIP, and end stage renal disease (ESRD) can be a devastating complication for AIP patients. The outcomes of AIP patients after kidney transplantation are poorly known.

METHODS:

We examined the outcomes of 11 individuals with AIP, identified as kidney transplant recipients in the French Porphyria Center Registry.

RESULTS:

AIP had been diagnosed on average 19 years before the diagnosis of ESRD except for one patient in whom the diagnosis of AIP had been made 5 years after the initiation of dialysis. Median follow-up after transplantation was 9 years. A patient died 2 months after transplantation from a cardiac arrest and a patient who received a donation after cardiac death experienced a primary non-function. No rejection episode and no noticeable adverse event occurred after transplantation. Serum creatinine was on average 117 μmol/l, and proteinuria <0.5 g/l in all patients at last follow up. All usually prescribed drugs after transplantation are authorized except for trimethoprim/sulfamethoxazole. Critically, acute porphyria attacks almost disappeared after kidney transplantation, and skin lesions resolved in all patients.

CONCLUSION:

Kidney transplantation is the treatment of choice for AIP patients with ESRD and dramatically reduces the disease activity.

• Authors: Helene Lazareth, Neila Talbi, Nassim Kamar, Charlène Levi, Bruno Moulin, Sophie Caillard, Luc Frimat, Jonathan Chemouny, Valérie Chatelet, Clément Vachey, Renaud Snanoudj, Thibaud Lefebvre, Alexandre Karras, Laurent Gouya, Caroline Schmitt, Hervé Puy, Nicolas Pallet
• Journal: Molecular genetics and metabolism (Mol Genet Metab) 2020 Sep - Oct Vol. 131 Issue 1-2 Pg. 259-266 ISSN: 1096-7206 [Electronic] United States
• PMID: 32893121 (Publication Type: Journal Article)
• Copyright: Copyright © 2020 Elsevier Inc. All rights reserved.

Chemical References

• Heme

Topics

• Adult
• Female
• Heme (biosynthesis, genetics)
• Humans
• Kidney (pathology)
• Kidney Failure, Chronic (complications, genetics, pathology, therapy)
• Kidney Transplantation
• Male
• Middle Aged
• Porphyria, Acute Intermittent (complications, genetics, pathology, therapy)
• Treatment Outcome
• Young Adult