RESUMEN
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.
Asunto(s)
Agammaglobulinemia/tratamiento farmacológico , Trasplante de Células Madre Hematopoyéticas , Inmunodeficiencia Combinada Grave/tratamiento farmacológico , Acondicionamiento Pretrasplante , Adenosina Desaminasa/deficiencia , Adenosina Desaminasa/inmunología , Agammaglobulinemia/inmunología , Agammaglobulinemia/mortalidad , Agammaglobulinemia/patología , Niño , Preescolar , Femenino , Supervivencia de Injerto , Prueba de Histocompatibilidad , Humanos , Inmunidad Celular , Inmunidad Humoral , Lactante , Recién Nacido , Estimación de Kaplan-Meier , Recuento de Linfocitos , Masculino , Agonistas Mieloablativos/uso terapéutico , Estudios Retrospectivos , Inmunodeficiencia Combinada Grave/inmunología , Inmunodeficiencia Combinada Grave/mortalidad , Inmunodeficiencia Combinada Grave/patología , Hermanos , Linfocitos T/inmunología , Resultado del Tratamiento , Donante no EmparentadoRESUMEN
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.