Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999
| Autor: | Elsa Shapiro, S Abel, Lawrence A. Lockman, Daniel J. Loes, Patrick R. Aubourg, Lawrence R. Charnas, Kathryn E. Dusenbery, Norma K.C. Ramsay, Paul J. Orchard, William Krivit, Shunichi Kato, Ye Tan, Charles Peters, Hugo W. Moser, Anne I. Goldman, Richard S. Ziegler, Todd E. DeFor, Satkiran S. Grewal |
|---|---|
| Rok vydání: | 2004 |
| Předmět: |
Oncology
medicine.medical_specialty Pathology Time Factors Transplantation Conditioning medicine.medical_treatment Immunology Graft vs Host Disease Disease Hematopoietic stem cell transplantation Biochemistry Internal medicine Cause of Death medicine Adrenal insufficiency Humans Adrenoleukodystrophy Cause of death Retrospective Studies medicine.diagnostic_test Hematopoietic cell business.industry Magnetic resonance imaging Cell Biology Hematology medicine.disease Survival Analysis Transplantation surgical procedures operative Treatment Outcome Disease Progression business Immunosuppressive Agents Whole-Body Irradiation Stem Cell Transplantation |
| Zdroj: | Blood. 104(3) |
| ISSN: | 0006-4971 |
| Popis: | Cerebral X-linked adrenoleukodystrophy (X-ALD) is a disorder of very-long-chain fatty acid metabolism, adrenal insufficiency, and cerebral demyelination. Death occurs within 2 to 5 years of clinical onset without hematopoietic cell transplantation (HCT). One hundred twenty-six boys with X-ALD received HCT from 1982 to 1999. Survival, engraftment, and acute graft-versus-host disease were studied. Degree of disability associated with neurologic and neuropsychological function and cerebral demyelination were evaluated before and after HCT. Complete data were available and analyzed for 94 boys with cerebral X-ALD. The estimated 5- and 8-year survival was 56%. The leading cause of death was disease progression. Donor-derived engraftment occurred in 86% of patients. Demyelination involved parietal-occipital lobes in 90%, leading to visual and auditory processing deficits in many boys. Overall 5-year survival of 92% in patients with 0 or 1 neurologic deficits and magnetic resonance imaging (MRI) severity score less than 9 before HCT was superior to survival for all others (45%; P < .01). Baseline neurologic and neuropsychological function, degree of disability, and neuroradiologic status predicted outcomes following HCT. In this first comprehensive report of the international HCT experience for X-ALD, we conclude that boys with early-stage disease benefit from HCT, whereas boys with advanced disease may be candidates for experimental therapies. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|