Adrenoleukodystrophy.

Q2 Medicine Handbook of clinical neurology Pub Date : 2024-01-01 DOI:10.1016/B978-0-323-99209-1.00022-3

Marc Engelen, Stephan Kemp, Florian Eichler

引用次数: 0

Abstract

X-linked adrenoleukodystrophy (ALD) is a peroxisomal disorder caused by mutations in the ABCD1 gene and characterized by impaired very long-chain fatty acid beta-oxidation. Clinically, male patients develop adrenal failure and progressive myelopathy in adulthood, although the age of onset and rate of progression are highly variable. In addition, 40% of male patients develop a leukodystrophy (cerebral ALD) before the age of 18 years. Women with ALD also develop myelopathy, but generally at a later age than men and with slower progression. Adrenal failure and leukodystrophy are exceedingly rare in women. Allogeneic hematopoietic cell transplantation (HCT), or more recently autologous HCT with ex vivo lentivirally transfected bone marrow, halts the leukodystrophy. Unfortunately, there is no curative treatment for the myelopathy. In this chapter, clinical spectrum of ALD is discussed in detail.

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肾上腺脑白质营养不良症

X连锁肾上腺白质营养不良症（ALD）是一种由ABCD1基因突变引起的过氧化物酶体疾病，其特征是超长链脂肪酸β-氧化作用受损。临床上，男性患者成年后会出现肾上腺功能衰竭和进行性脊髓病，但发病年龄和进展速度差异很大。此外，40% 的男性患者会在 18 岁前出现白营养不良症（脑 ALD）。女性 ALD 患者也会出现脊髓病，但一般比男性患者发病年龄晚，进展速度也较慢。肾上腺功能衰竭和白营养不良在女性中极为罕见。同种异体造血细胞移植（HCT），或最近使用慢病毒转染的体外骨髓进行自体造血细胞移植，可阻止白营养不良的发生。遗憾的是，目前还没有治疗脊髓病的方法。本章将详细讨论 ALD 的临床表现。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Handbook of clinical neurology Medicine-Neurology (clinical)

CiteScore

4.10

自引率

0.00%

发文量

302

期刊介绍： The Handbook of Clinical Neurology (HCN) was originally conceived and edited by Pierre Vinken and George Bruyn as a prestigious, multivolume reference work that would cover all the disorders encountered by clinicians and researchers engaged in neurology and allied fields. The first series of the Handbook (Volumes 1-44) was published between 1968 and 1982 and was followed by a second series (Volumes 45-78), guided by the same editors, which concluded in 2002. By that time, the Handbook had come to represent one of the largest scientific works ever published. In 2002, Professors Michael J. Aminoff, François Boller, and Dick F. Swaab took on the responsibility of supervising the third (current) series, the first volumes of which published in 2003. They have designed this series to encompass both clinical neurology and also the basic and clinical neurosciences that are its underpinning. Given the enormity and complexity of the accumulating literature, it is almost impossible to keep abreast of developments in the field, thus providing the raison d''être for the series. The series will thus appeal to clinicians and investigators alike, providing to each an added dimension. Now, more than 140 volumes after it began, the Handbook of Clinical Neurology series has an unparalleled reputation for providing the latest information on fundamental research on the operation of the nervous system in health and disease, comprehensive clinical information on neurological and related disorders, and up-to-date treatment protocols.

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