X连锁肾上腺脑白质营养不良携带者筛查遗传咨询专家共识《X连锁肾上腺脑白质营养不良携带者筛查遗传咨询专家共识》制订组
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肖波(1962―),男,中南大学湘雅医院,博士,教授,博士生导师,主要从事癫痫及罕见病的科研及临床诊疗。Email:xiaobo_xy@126.com。

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国家重点研发计划(2021YFC1005305)。


Expert consensus on genetic counselling of carrier screening for X-linked adrenoleukodystrophy
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    摘要:

    X连锁肾上腺脑白质营养不良(X-ALD)是一种X连锁隐性遗传疾病。男性多见,临床症状及预后差异显著。主要临床表现包括肾上腺皮质功能不全、肾上腺脊髓病及脑白质病。女性携带者可出现不同程度的临床症状。因此,X-ALD携带者筛查是降低出生缺陷及患儿早期治疗的关键。该共识参考国内外的相关研究、指南和共识,从筛查方法、适用人群、筛查流程、筛查前后咨询等方面进行阐述,以规范其临床应用。

    Abstract:

    X-linked adrenoleukodystrophy (X-ALD) is an X-linked recessive genetic disorder and primarily affects male individuals, with significant differences in clinical symptoms and prognosis. The main clinical manifestations of X-ALD include adrenocortical insufficiency, adrenomyeloneuropathy, and leukoencephalopathy, and female carriers may have varying degrees of clinical symptoms. Therefore, X-ALD carrier screening is essential for reducing birth defects and providing early treatment. Based on related studies, guidelines, and consensus statements in China and globally, this consensus elaborates on screening methods, target populations, screening processes, and genetic counseling before and after screening, in order to standardize the clinical application of carrier screening. [Journal of International Neurology and Neurosurgery, 2024, 51(5): 23-29]

    图1 X-ALD携带者筛查流程图Fig.1
    图1 X-ALD携带者筛查流程图Fig.1
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456. X连锁肾上腺脑白质营养不良携带者筛查遗传咨询专家共识《X连锁肾上腺脑白质营养不良携带者筛查遗传咨询专家共识》制订组[J].国际神经病学神经外科学杂志,2024,51(5):23-29111222. Expert consensus on genetic counselling of carrier screening for X-linked adrenoleukodystrophy[J]. Journal of International Neurology and Neurosurgery,2024,51(5):23-29

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  • 收稿日期:2024-06-18
  • 最后修改日期:2024-09-29
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  • 在线发布日期: 2024-11-04
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