RESUMO
Reticular dysgenesis is a rare congenital disorder characterized by severe combined immunodeficiency and profound neutropenia, curable to date, only by bone marrow transplantation. This report describes the association of bilateral sensorineural deafness with this disease.
Assuntos
Surdez/congênito , Surdez/diagnóstico , Leucopenia/congênito , Leucopenia/diagnóstico , Doenças Linfáticas/congênito , Doenças Linfáticas/diagnóstico , Imunodeficiência Combinada Severa/congênito , Imunodeficiência Combinada Severa/diagnóstico , Timo , Audiometria , Transplante de Medula Óssea , Potenciais Evocados Auditivos do Tronco Encefálico , Feminino , Teste de Histocompatibilidade , Humanos , Incidência , Lactente , Recém-Nascido , Contagem de Leucócitos , Leucopenia/sangue , Leucopenia/genética , Leucopenia/terapia , Doenças Linfáticas/sangue , Doenças Linfáticas/genética , Doenças Linfáticas/terapia , Masculino , Estudos Retrospectivos , Imunodeficiência Combinada Severa/sangue , Imunodeficiência Combinada Severa/genética , Imunodeficiência Combinada Severa/terapiaRESUMO
Even though there is recognized morbidity and death associated with bone marrow transplantation, this procedure has been performed successfully in a substantial number of patients with hemoglobinopathies. However, finding a suitable related donor is often difficult and the morbidity associated with the use of unrelated donors is high. Several reports indicate that fewer than 30% of patients with thalassemia major and fewer than 20% of patients with sickle cell anemia have histocompatible siblings. Human umbilical cord blood (UCB) contains hematopoietic stem cells capable of reconstituting bone marrow. To date, approximately 200 transplantations have been performed with UCBs. Early results suggest that, even with substantial human leukocyte antigen (HLA) incompatibility, a decrease in the incidence of graft-versus-host disease occurs with cord blood. The extent to which HLA incompatibility can be tolerated when cord blood is used has not been determined. These results raise the possibility that UCB obtained from unrelated donors could be used for transplantation in patients with hemoglobinopathies. This review summarizes current data on UCB stem cells used for transplantation in hematologic diseases. The review contains a discussion of the potential uses of UCB for patients with hemoglobinopathies and the value of programs designed to collect UCB from newborn infants with hemoglobinopathies, from siblings of patients with hemoglobinopathies, and from groups of ethnic minorities similar to those in which hemoglobinopathies are found.