No evidence for the reversal of adrenal failure after hematopoietic cell transplantation in X-linked adrenoleukodystrophy

摘要

X-linked adrenoleukodystrophy (ALD) is a peroxisomal disorder characterized by accumulation of saturated very long-chain fatty acids (VLCFA) primarily in the adrenal cortex, central nervous system and testes. ALD results from mutations in the ABCD1 gene, which encodes a peroxisomai membrane transport protein. The link between peroxisomal dysfunction and accumulation of VLCFA is not completely understood. Although impaired peroxisomal beta-oxidation of VLCFA has been shown to have a role, mechanisms independent of the peroxisomal beta-oxidation have also been proposed. The severity and tempo of progression of end-organ involvement vary among patients. Neurological disease is the most devastating manifestation, presenting either during childhood as rapidly progressive cerebral ALD or during adulthood as adrenomyeloneuropathy, a slowly progressive disease of the spinal cord, or both. Adrenal insufficiency (Al), either subclinical or overt, is found in the majority of patients with ALD, and may be present in up to 92% of children with cerebral disease.