女性杂合子X-连锁肾上腺脑白质营养不良诊断及治疗的研究进展

Research progress in diagnosis and treatment of female heterozygotes with X - linked adrenoleukodystrophy

X-连锁肾上腺脑白质营养不良（X-ALD）是最常见的过氧化物酶体病，属单一过氧化物酶体酶缺陷性疾病，由ABCD1基因缺陷导致血浆及组织中极长链脂肪酸的堆积。男性患者临床表型多样已被频繁讨论报道，其中进展性的脊髓神经病变是最常见的。对于X染色体连锁隐性遗传疾病，人们多认为女性杂合子携带者一般临床表型不明显，仅有少数关于X—ALD女性携带者临床表型的研究，而此类患者亦需深入研究和探讨。现对X-ALD女性携带者的临床表现、诊断及治疗的研究进展进行综述，加强对其临床诊疗的认识，为准确的预后评估与诊治提供依据。

X- linked adrenoleukodystrophy is the most common peroxisomal disorder, which belongs to single peroxidase enzyme deficiency disease. It is caused by mutations in the ABCD1 gene and alterations in peroxisomal beta - oxidation of long chain fatty acid in plasma and tissues. It manifests a wide range of phenotypes in male and it has been frequently discussed, in which progressive myelopathy is the most common. For X - linked recessive inheritance, female heterozygotes are always thought to be nonpathogenic. There have been only limited studies specifically focused on the phenotype of female heterozygotes, while, these patients also need further study. This article discusses the clinical manifestations, diagnosis and treatment of female heterozygotes with X - linked adrenoleukodystrophy, to enhance people＇s understanding of clinical diagnosis and treatment, and provide the basis for accurate prognosis assess- ment and diagnosis.