ABSTRACT
La porfiria eritropoyética congènita es una porfiria cutánea no aguda, extremadamente poco frecuente, autosómica recesiva, producida por la deficiencia de la enzima uroporfirinógeno III sintetasa codificada en el gen UROS, en el cromosoma 10q26.2. Esto genera el depósito y la acumulación de porfirinas en las córneas, los huesos y los dientes. Se presenta desde los primeros meses de vida con intensa fotosensibilidad, que se manifiesta con fragilidad cutánea con formación de vesículas, bulas y costras. El curso grave lleva a la mutilación de tejidos acrales, compromiso ocular, anemia hemolítica e hiperesplenismo. El manejo es complejo, basado, sobre todo, en la fotoprotección. Un correcto diagnóstico y enfrentamiento puede mejorar notablemente la calidad y expectativas de vida de estos pacientes. Se presenta el caso de un lactante con porfiria eritropoyética congénita confirmada con el estudio genético.
Congenital erythropoietic porphyria is an extremely rare, autosomal recessive, non-acute cutaneous porphyria, caused by uroporphyrinogen III synthase deficiency, codificated by UROS gene on the chromosome 10q26.2. Porphyrins deposit in cornea, bones and teeth. The first symptoms could be manifested in early childhood, with skin fragility, vesicles and bullae. Severe course produces acral tissues mutilation, eye involvement, hemolytic anemia and hypersplenism. The treatment is complex and it is based in the photoprotection. A correct diagnosis can significantly improve the quality and life expectancy of these patients. We present the case of a child with congenital erythropoietic porphyria confirmed by genetic analysis.
Subject(s)
Humans , Male , Infant , Porphyria, Erythropoietic/therapy , Practice Guidelines as TopicABSTRACT
Public cord blood banks are a source of hematopoietic stem cells for patients with hematological diseases who lack a family donor and need allogeneic transplantation. In June 2007 we started a cord blood bank with units donated in three maternity wards in Santiago, Chile. We report the first three transplants done with cord blood units form this bank. Cord blood units were obtained by intrauterine collection at delivery. They were depleted of plasma and red cells and frozen in liquid nitrogen. Tests for total nucleated cells, CD34 cell content, viral serology, bacterial cultures and HLA A, B and DRB1 were done. Six hundred cord blood units were stored by March 2012. Three patients received allogeneic transplant with cord blood from our bank, two with high risk lymphoblastic leukemia and one with severe congenital anemia. They received conditioning regimens according to their disease and usual supportive care for unrelated donor transplantation until full hematopoietic and immune reconstitution was achieved. The three patients had early engraftment of neutrophils and platelets. The child corrected his anemia and the leukemia patients remain in complete remission. The post-transplant course was complicated with Epstein Barr virus, cytomegalovirus and BK virus infection. Two patients are fully functional 24 and 33 months after transplant, the third is still receiving immunosuppression.
Subject(s)
Child, Preschool , Humans , Middle Aged , Hematopoietic Stem Cell Transplantation/methods , Transplantation, Homologous/methods , Unrelated Donors , Anemia, Diamond-Blackfan/surgery , Blood Banks , Fetal Blood/transplantation , Precursor Cell Lymphoblastic Leukemia-Lymphoma/surgery , Treatment OutcomeABSTRACT
Hematopoietic stem cell transplantation is the accepted therapy of choice for a variety of malignant and non-malignant diseases in children and adults. Initially developed as rescue therapy for a patient with cancer after high doses of chemotherapy and radiation as well as the correction of severe deficiencies in the hematopoietic system, it has evolved into an adoptive immune therapy for malignancies and autoimmune disorders. The procedure has helped to obtain key information about the bone marrow environment, the biology of hematopoietic stem cells and histocompatibility. The development of this new discipline has allowed numerous groups working around the world to cure patients of diseases previously considered lethal. Together with the ever growing list of volunteer donors and umbilical cord blood banks, this has resulted in life saving therapy for thousands of patients yearly. We present an overview of the procedure from its cradle to the most novel applications, as well as the results of the HSC transplant program developed at our institution since 1989.