Júlia Plentz Portich, Aline Sinhorelo Ribeiro, Adriano Nori Rodrigues Taniguchi, Ariane Backes, Carolina Fischinger Moura de Souza, Carlos Oscar Kieling, Fernanda Fetter Scherer, Fabiano de Oliveira Poswar, Ian Leipnitiz, Ida Vanessa Doederlein Schwartz, Leo Sekine, Lisandra Della Costa Rigoni, Luciana Marquardt da Silveira, Marina de Almeida Furlanetto, Marina Rossato Adami, Raquel Cristine Breunig, Renata Rostirola Guedes, Sheila Nogueira do Amaral, Sandra Maria Gonçalves Vieira, Tahiane de Brum Soares, Thiago Oliveira Silva, Lúcia Mariano da Rocha Silla, Claudia Caceres Astigarraga, Alessandra Aparecida Paz, Liane Esteves Daudt
BACKGROUND: Erythropoietic protoporphyria (EPP) is a rare inherited disease of heme biosynthesis resulting in the accumulation of protoporphyrin, characterized by liver failure in a minority of cases. Although liver transplant (LT) is the therapeutic strategy for advanced hepatic disease, it does not correct the primary defect, which leads to recurrence in liver graft. Thus, hematopoietic stem cell transplantation (HSCT) is an approach for treating EPP. METHODS: We aim to describe the first sequential LT and HSCT for EPP performed in Latin America, besides reviewing the present-day literature...
August 3, 2023: Journal of Pediatric Hematology/oncology