ArticleEuropean journal of pediatrics2005
Successful match-unrelated donor bone marrow transplantation for congenital erythropoietic porphyria (Günther disease).
Article in European journal of pediatrics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 71 citations in OpenAlex.
- [Two siblings with congenital erythropoietic porphyria in one family: case report and literature review].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Review
- The role of allogeneic stem cell transplantation in severe erythropoietic protoporphyria in adults and young adults: timing and modalities.Hematology, transfusion and cell therapy · 2024Article
- Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation in an adult: A case report.Skin health and disease · 2024Article
- Severe Perinatal Presentations of Günther's Disease: Series of 20 Cases and Perspectives.Life (Basel, Switzerland) · 2024Article
- Very Early Diagnosis and Management of Congenital Erythropoietic Porphyria.Clinical pediatrics · 2023Article
- [Advances in the diagnosis and treatment of porphyria-related hepatic manifestations].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2022Article
- Congenital erythropoietic porphyria: Recent advances.Molecular genetics and metabolism · 2019Review
- Review
- Metabolic correction of congenital erythropoietic porphyria with iPSCs free of reprogramming factors.American journal of human genetics · 2012Article
- Intracellular rescue of the uroporphyrinogen III synthase activity in enzymes carrying the hotspot mutation C73R.The Journal of biological chemistry · 2011Article
- Congenital erythropoietic porphyria: characterization of murine models of the severe common (C73R/C73R) and later-onset genotypes.Molecular medicine (Cambridge, Mass.) · 2011Article
- Effective gene therapy of mice with congenital erythropoietic porphyria is facilitated by a survival advantage of corrected erythroid cells.American journal of human genetics · 2008Article
- Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions.American journal of human genetics · 2006Article
- Congenital Erythropoietic Porphyria with Undescended Testis.Indian journal of dermatologyArticle
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Authors and funding
11 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledCongenital erythropoietic porphyria (CEP; Gunther disease; OMIM 263700) is a rare autosomal recessive disorder caused by a deficiency of uroporphyrinogen III synthase (UROS). The deficiency of this enzyme is associated with lifelong overproduction of series I porphyrins which circulate and are deposited in many tissues, causing light-sensitisation and severe damage to skin beginning in childhood. Blistering and scarring of exposed areas may lead to mutilating deformities. We describe two cases: a 4-year-old boy and his first cousin who were cured of CEP by matched unrelated donor bone marrow transplants. Both are alive and disease-free 3 and 2 years post-transplant, respectively. Cutaneous lesions improved dramatically. The correction of the enzyme deficiency was confirmed by measuring erythrocyte UROS activity and urinary porphyrin excretion. Chimerism was complete for both children. Both patients were homoallelic for a novel mutation of the UROS gene, the missense mutation A69T.
conclusionConsidering the severity of the disease, if HLA-matched sibling donor is not available, haematopoietic stem cell transplantation using a matched unrelated donor should be strongly considered for treating congenital erythropoietic porphyria since this is currently the only known curative therapy.
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