RESUMO
Deficiency of the purine salvage enzyme adenosine deaminase leads to SCID (ADA-SCID). Hematopoietic cell transplantation (HCT) can lead to a permanent cure of SCID; however, little data are available on outcome of HCT for ADA-SCID in particular. In this multicenter retrospective study, we analyzed outcome of HCT in 106 patients with ADA-SCID who received a total of 119 transplants. HCT from matched sibling and family donors (MSDs, MFDs) had significantly better overall survival (86% and 81%) in comparison with HCT from matched unrelated (66%; P < .05) and haploidentical donors (43%; P < .001). Superior overall survival was also seen in patients who received unconditioned transplants in comparison with myeloablative procedures (81% vs 54%; P < .003), although in unconditioned haploidentical donor HCT, nonengraftment was a major problem. Long-term immune recovery showed that regardless of transplant type, overall T-cell numbers were similar, although a faster rate of T-cell recovery was observed after MSD/MFD HCT. Humoral immunity and donor B-cell engraftment was achieved in nearly all evaluable surviving patients and was seen even after unconditioned HCT. These data detail for the first time the outcomes of HCT for ADA-SCID and show that, if patients survive HCT, long-term cellular and humoral immune recovery is achieved.
Assuntos
Agamaglobulinemia/tratamento farmacológico , Transplante de Células-Tronco Hematopoéticas , Imunodeficiência Combinada Severa/tratamento farmacológico , Condicionamento Pré-Transplante , Adenosina Desaminase/deficiência , Adenosina Desaminase/imunologia , Agamaglobulinemia/imunologia , Agamaglobulinemia/mortalidade , Agamaglobulinemia/patologia , Criança , Pré-Escolar , Feminino , Sobrevivência de Enxerto , Teste de Histocompatibilidade , Humanos , Imunidade Celular , Imunidade Humoral , Lactente , Recém-Nascido , Estimativa de Kaplan-Meier , Contagem de Linfócitos , Masculino , Agonistas Mieloablativos/uso terapêutico , Estudos Retrospectivos , Imunodeficiência Combinada Severa/imunologia , Imunodeficiência Combinada Severa/mortalidade , Imunodeficiência Combinada Severa/patologia , Irmãos , Linfócitos T/imunologia , Resultado do Tratamento , Doadores não RelacionadosRESUMO
Total parenteral nutrition is an important adjunct in the care of neonates with surgical disorders. Cholestasis is at present the most worrisome complication of this technique; it is difficult to treat and may progress to eventual cirrhosis and liver failure. This article reviews the pertinent clinical and nutritional data in a surgical patient with short bowel syndrome who developed parenteral nutrition-associated liver disease successfully treated with fish-oil based lipids.