X 연관 부신백질이영양증의 분류, 진단 및 치료의 최신 지견

• 영문명: X-linked adrenoleukodystrophy; Recent Advances in Classification, Diagnosis and Management
• 발행기관: 대한소아신경학회
• 저자명: 정을식(Eul Sik Jung) 고아라(Ara Ko) 강훈철(Hoon Chul Kang)
• 간행물 정보: 『Annals of Child Neurology(구 대한소아신경학회지)』대한소아신경학회지 제24권 제3호, 71~83쪽, 전체 13쪽
• 주제분류: 의약학 > 소아과학
• 파일형태: PDF
• 발행일자: 2016.09.30

영문 초록

X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ATP binding cassette subfamily D member 1 (ABCD1), a gene that encodes peroxisomal membrane located on ABC half-transporter named adrenoleukodystrophy protein (ALDP). X-ALD is characterized by a highly variable clinical spectrum, including progressive cerebral type, adrenomyeloneuropathy, and addison-only phenotype. No genotype/phenotype correlation has been established. Thus, unidentified modifier genes and other co-factors are speculated to modulate the phenotypic variation and disease severity. Recent advanced sequencing methods and reprogramming technologies not only offer an affordable and applicable approach to investigate the pathophysiological mechanisms of adrenoleukodystrophy, but also provide means to develop therapy. A causal therapy of X-ALD is lacking. Lorenzo’s oil therapy is recommended for asymptomatic boys, but the longest study found that the oil was not beneficial at all to symptomatic X-ALD patients. Hematopoietic stem cell therapy has a relevant chance of success when performed during this early stage of cerebral type X-ALD. Recently, it has been insisted that lentiviral-mediated gene therapy of hematopoietic stem cells can provide clinical benefits in X-ALD. This review describes current knowledge on the clinical presentation, pathogenesis, diagnosis and management of X- ALD.

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키워드

Adrenoleukodystrophy Demyelinating disease Myelopathy Addison disease