Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation in an adult: A case report-Reference-Cited by-同舟云学术

Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation in an adult: A case report

Published:2024-01-27 Issue:2 Volume:4 Page:
ISSN:2690-442X
Container-title:Skin Health and Disease
language:en
Short-container-title:Skin Health and Disease

Author:

Peterlin Pierre¹²^ORCID,Bonnelye Julia³,Garnier Alice¹,Le Bourgeois Amandine¹,Guillaume Thierry¹²,Jullien Maxime¹,Dutartre Hervé³,Le Moigne Marie³,Schmitt Caroline⁴,Gouya Laurent⁴,Poli Antoine⁴,Barbarot Sebastien³,Chevallier Patrice¹²

Affiliation:

1. Clinical Hematology Nantes University Hospital Nantes France

2. Equipe 12 CRCI2NA ‐ INSERM UMR1307 CNRS UMR 6075 CRCINA IRS‐UN University of Nantes Nantes France

3. Dermatology Department Reference Center for Cutaneous Porphyrias Nantes University Hospital Nantes France

4. Reference Center for Rare Diseases Porphyrias Louis Mourier Hospital AP‐HP, Colombes and Research Center of Inflammation UMR1149 INSERM Université de Paris Paris France

Abstract

AbstractCongenital erythropoietic porphyria (CEP), or Gunther disease, is a rare genetic disease responsible for severe dermatologic, hepatic and/or haematological damages related to the deficient activity of the uroporphyrinogen III synthase. Allogeneic stem cell transplantation (Allo‐SCT) represents the only curative treatment and few allotransplanted cases have been reported in children but not in adults. Here we report for the first time the successful cure of a 46‐year old man with CEP with a 5‐year follow‐up after Allo‐SCT.

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ski2.342

Reference15 articles.

1. Advances in understanding the pathogenesis of congenital erythropoietic porphyria

2. Bone Marrow Transplantation in Congenital Erythropoietic Porphyria: Sustained Efficacy but Unexpected Liver Dysfunction