Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome

被引：0

作者：

Morales Saute, Jonas Alex ^{[1
,2
,5
]}

Moura de Souza, Carolina Fischinger ^{[1
]}

Poswar, Fabian de Oliveira ^{[7
]}

Donis, Karina Carvalho ^{[1
,3
]}

Campos, Lillian Goncalves ^{[4
,5
]}

Santini Deyl, Adriana Vanessa ^{[6
]}

Burin, Moira Graeff ^{[1
]}

Vargas, Carmen Regla ^{[1
,13
]}

Matte, Ursula da Silveira ^{[7
,8
,9
]}

Giugliani, Roberto ^{[1
,3
,5
,7
,8
,9
]}

Saraiva-Pereira, Maria Luiza ^{[1
,2
,7
,10
]}

Vedolin, Leonardo Modesti ^{[4
,5
]}

Gregianin, Laura Jose ^{[6
,12
]}

Jardim, Laura Bannach ^{[1
,2
,3
,5
,7
,11
]}

机构：

[1] Hosp Clin Porto Alegre, Serv Genet Med, Rua Ramiro Barcelos 2350, BR-90035903 Porto Alegre, RS, Brazil

[2] Hosp Clin Porto Alegre, Lab Identificacao Genet, Porto Alegre, RS, Brazil

[3] Univ Fed Rio Grande do Sul, Programa Posgrad Saude Crianca & Adolescente, Porto Alegre, RS, Brazil

[4] Hosp Clin Porto Alegre, Serv Radiol, Porto Alegre, RS, Brazil

[5] Univ Fed Rio Grande do Sul, Programa Posgrad Ciencias Med, Porto Alegre, RS, Brazil

[6] Hosp Clin Porto Alegre, Serv Oncol Pediat, Porto Alegre, RS, Brazil

[7] Univ Fed Rio Grande do Sul, Programa Posgrad Genet & Biol Mol, Porto Alegre, RS, Brazil

[8] Hosp Clin Porto Alegre, Lab Terapia Gen, Porto Alegre, RS, Brazil

[9] Univ Fed Rio Grande do Sul, Dept Genet & Biol Mol, Porto Alegre, RS, Brazil

[10] Univ Fed Rio Grande do Sul, Dept Bioquim, Porto Alegre, RS, Brazil

[11] Univ Fed Rio Grande do Sul, Dept Med Interna, Porto Alegre, RS, Brazil

[12] Univ Fed Rio Grande do Sul, Dept Pediat, Porto Alegre, RS, Brazil

[13] Univ Fed Rio Grande do Sul, Fac Farm, Porto Alegre, RS, Brazil

来源：

ARQUIVOS DE NEURO-PSIQUIATRIA | 2016年 / 74卷 / 12期

关键词：

hematopoietic stem cell transplantation; leukodystrophy; metachromatic; mucopolysaccharidosis I; adrenoleukodystrophy; BONE-MARROW-TRANSPLANTATION; CORD BLOOD TRANSPLANTATION; INSTITUTION COHORT REPORT; FOLLOW-UP; EXPERIENCE; DISORDERS; CHILDREN;

D O I：

10.1590/0004-282X20160155

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

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.

引用

页码：953 / 966

页数：14

共 35 条

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