[Hematopoietic cell transplantation in X-linked adrenoleukodystrophy].

[adrenomyeloneuropathy]

X-linked adrenoluekodystrophy (X-ALD ) is a clinically heterogenous disorder ranging from the rapidly progressive childhood cerebral form to the milder adrenomyeloneuropathy in adults , and some persons with ALD protein (ALDP ) defects may remain asymptomatic for life . Hematopoietic cell transplantation (HCT ) is currently the only effective therapy for cerebral X-ALD . Stem cell sources for transplantation are bone marrow , peripheral blood and cord blood . The donor should be HLA identical with the recipient and can be found within family members or from unrelated bone marrow or cord blood donor pools . Preparative conditioning with supralethal chemoradiotherapy is needed for donor cell engraftment , and immunosuppressive agents are given for months as prophylaxis against graft-verus-host disease (GVHD ). Worldwide data collection reported 56 % of long term survival . Neurologic and MRI severity at the time of transplantation was the most important factor for survival and the degree of improvement after transplantation . More than 90 % of early stage patients have survived with good quality of life for a long term , whereas patients with advanced disease had the higher mortality rate during transplant procedures and the neurological abnormalities progressed in most of them . Patients with a parietal -occipital lobe pattern of demyelination demonstrated a greater mean loss of performance IQ (PIQ ) points than patients with a frontal lobe pattern of demyelination . Thus , boys with early -stage disease benefit from HCT , whereas boys with advanced disease may be candidates for experimental therapies .