Current International Perspectives on Hematopoietic Stem Cell Transplantation for Inherited Metabolic Disorders

被引：89

作者：

Boelens, Jaap J. ^{[3
]}

Prasad, Vinod K. ^{[4
]}

Tolar, Jakub ^{[5
]}

Wynn, Robert F. ^{[6
]}

Peters, Charles ^{[1
,2
]}

机构：

[1] Sanford Childrens Hosp, Sioux Falls, SD 57117 USA

[2] Univ S Dakota, Sanford Sch Med, Sioux Falls, SD USA

[3] Wilhelmina Childrens Hosp, UMC Utrecht, Blood & Marrow Transplantat Program, Dept Pediat, NL-3584 EA Utrecht, Netherlands

[4] Duke Univ, Sch Med, Duke Univ Med Ctr, Blood & Marrow Transplant Program,Dept Pediat, Durham, NC 27710 USA

[5] Univ Minnesota, Sch Med, Dept Pediat, Div Pediat Blood & Marrow Transplantat, Minneapolis, MN 55455 USA

[6] Royal Manchester Childrens Hosp, Dept Paediat Haematol & Oncol, Blood & Marrow Transplant Programme, Manchester M13 OJH, Lancs, England

来源：

PEDIATRIC CLINICS OF NORTH AMERICA | 2010年 / 57卷 / 01期

关键词：

Hematopoietic stem cell transplantation; Pediatrics; Inherited metabolic disorders; Storage diseases; Inborn errors of metabolism; Bone marrow transplantation; Umbilical cord blood transplantation; BONE-MARROW-TRANSPLANTATION; CORD BLOOD TRANSPLANTATION; ENZYME-REPLACEMENT THERAPY; X-LINKED ADRENOLEUKODYSTROPHY; TERM-FOLLOW-UP; JUVENILE METACHROMATIC LEUKODYSTROPHY; NEONATAL GENE-THERAPY; RISK-FACTOR ANALYSIS; ALPHA-L-IDURONIDASE; IIB HUNTER-SYNDROME;

D O I：

10.1016/j.pcl.2009.11.004

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Inherited metabolic disorders (IMD) or inborn errors of metabolism are a diverse group of diseases arising from genetic defects in lysosomal enzymes or peroxisomal function. These diseases are characterized by devastating systemic processes affecting neurologic and cognitive function, growth and development, and cardiopulmonary status. Onset in infancy or early childhood is typically accompanied by rapid deterioration. Early death is a common outcome. Timely diagnosis and immediate referral to an IMD specialist are essential steps in management of these disorders. Treatment recommendations are based on the disorder, its phenotype including age at onset and rate of progression, severity of clinical signs and symptoms, family values and expectations, and the risks and benefits associated with available therapies such as allogeneic hematopoietic stem cell transplantation (HSCT). This review discusses indications for HSCT and outcomes of HSCT for selected IMD. An international perspective on progress, limitations, and future directions in the field is provided.

引用

页码：123 / +

页数：25

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