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

Oleh:

Boelens, Jaap J. ; Prasad, Vinod K. ; Tolar, Jakub ; Wynn, Robert F. ; Peters, Charles

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Pediatric Clinics of North America vol. 57 no. 01 (Feb. 2010), page 123-145.
Topik: Hematopoietic stem cell transplantation; Pediatrics; Inherited metabolic disorders; Storage diseases; Inborn errors of metabolism; Bone marrow transplantation; Umbilical cord blood transplantation

Ketersediaan

Perpustakaan FK Nomor Panggil: P13.K.2010.01 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

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.

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