RESUMEN
OBJECTIVE: To describe survival and neurological outcomes after HSCT for these disorders. METHODS: Seven CALD, 2 MLD and 2 MPS-IH patients underwent HSCT between 2007 and 2014. Neurological examinations, magnetic resonance imaging, molecular and biochemical studies were obtained at baseline and repeated when appropriated. RESULTS: Favorable outcomes were obtained with 4/5 related and 3/6 unrelated donors. Two patients died from procedure-related complications. Nine transplanted patients were alive after a median of 3.7 years: neurological stabilization was obtained in 5/6 CALD, 1/2 MLD, and one MPS-IH patient. Brain lesions of the MPS-IH patient were reduced four years after HSCT. CONCLUSION: Good outcomes were obtained when HSCT was performed before adulthood, early in the clinical course, and/or from a related donor.
Asunto(s)
Adrenoleucodistrofia/cirugía , Trasplante de Células Madre Hematopoyéticas , Leucodistrofia Metacromática/cirugía , Mucopolisacaridosis I/cirugía , Adolescente , Adrenoleucodistrofia/genética , Adrenoleucodistrofia/mortalidad , Adulto , Edad de Inicio , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Brasil/epidemiología , Niño , Preescolar , Femenino , Trasplante de Células Madre Hematopoyéticas/mortalidad , Humanos , Leucodistrofia Metacromática/genética , Leucodistrofia Metacromática/mortalidad , Imagen por Resonancia Magnética , Masculino , Mucopolisacaridosis I/genética , Mucopolisacaridosis I/mortalidad , Linaje , Estudios Retrospectivos , Donantes de Tejidos , Acondicionamiento Pretrasplante/métodos , Resultado del Tratamiento , Sustancia Blanca/diagnóstico por imagen , Adulto JovenRESUMEN
ABSTRACT Hematopoietic stem cell transplantation (HSCT) is the only available treatment for the neurological involvement of disorders such as late-onset metachromatic leukodystrophy (MLD), mucopolysaccharidosis type I-Hurler (MPS-IH), and X-linked cerebral adrenoleukodystrophy (CALD). Objective To describe survival and neurological outcomes after HSCT for these disorders. Methods Seven CALD, 2 MLD and 2 MPS-IH patients underwent HSCT between 2007 and 2014. Neurological examinations, magnetic resonance imaging, molecular and biochemical studies were obtained at baseline and repeated when appropriated. Results Favorable outcomes were obtained with 4/5 related and 3/6 unrelated donors. Two patients died from procedure-related complications. Nine transplanted patients were alive after a median of 3.7 years: neurological stabilization was obtained in 5/6 CALD, 1/2 MLD, and one MPS-IH patient. Brain lesions of the MPS-IH patient were reduced four years after HSCT. Conclusion Good outcomes were obtained when HSCT was performed before adulthood, early in the clinical course, and/or from a related donor.
RESUMO O transplante de células tronco hematopoiéticas (TCTH) é o único tratamento disponível para o envolvimento neurológico de doenças como a leucodistrofia metacromática (MLD), a mucopolissacaridose tipo I-Hurler (MPS-IH) e a adrenoleucodistrofia (CALD). Objetivos Descrever a sobrevida e os desfechos neurológicos após o TCTH nessas doenças. Métodos Sete pacientes CALD, 2 MLD e 2 MPS-IH realizaram TCTH entre 2007 e 2014. Avaliações neurológicas, ressonância nuclear magnética e estudos bioquímicos e moleculares foram feitos no baseline e repetidos quando apropriado. Resultados Desfechos favoráveis foram obtidos em 4/5 TCTH de doadores relacionados e em 3/6 não relacionados. Dois pacientes faleceram de complicações do procedimento. Nove transplantados sobreviveram após uma mediana de 3,7 anos: estabilização neurológica foi obtida em 5/6 CALD, ½ MLD e em um caso MPS-IH. As lesões encefálicas de um caso MPS-IH reduziram-se quatro anos após o TCTH. Conclusão Bons desfechos foram obtidos quando o TCTH foi feito antes da vida adulta, cedo no curso clínico e/ou a partir de um doador relacionado.
Asunto(s)
Humanos , Masculino , Femenino , Preescolar , Niño , Adolescente , Adulto , Adulto Joven , Mucopolisacaridosis I/cirugía , Trasplante de Células Madre Hematopoyéticas/mortalidad , Adrenoleucodistrofia/cirugía , Leucodistrofia Metacromática/cirugía , Linaje , Donantes de Tejidos , Encéfalo/patología , Encéfalo/diagnóstico por imagen , Brasil/epidemiología , Imagen por Resonancia Magnética , Estudios Retrospectivos , Resultado del Tratamiento , Mucopolisacaridosis I/genética , Mucopolisacaridosis I/mortalidad , Edad de Inicio , Adrenoleucodistrofia/genética , Adrenoleucodistrofia/mortalidad , Acondicionamiento Pretrasplante/métodos , Sustancia Blanca/diagnóstico por imagen , Leucodistrofia Metacromática/genética , Leucodistrofia Metacromática/mortalidadRESUMEN
We describe the use of enzyme replacement therapy in conjunction with hematopoietic stem cell transplantation in 18 consecutive patients with severe mucopolysaccharidosis type I. The survival and engraftment rate was 89% overall and 93% for the 15 patients who received full-intensity conditioning.