leukodystrophy

简明释义

英[ˌluːkəʊˈdɪstrəfi]美[ˌluːkoʊˈdɪstrəfi]

n. 脑白质营养不良；[内科] 脑白质病变

英英释义

单词用法

同义词

反义词

例句

1.Abnormal enhancement is not seen in PMD as opposed to some demyelinating disorders such as adrenal leukodystrophy in which enhancement is seen at the periphery of the active demyelination.

PMD中不会有异常的强化，相反其他的脱髓鞘病变如肾上腺脑白质营养不良症其外周活动性的脱髓鞘病变可以强化。

2.Abnormal enhancement is not seen in PMD as opposed to some demyelinating disorders such as adrenal leukodystrophy in which enhancement is seen at the periphery of the active demyelination.

PMD中不会有异常的强化，相反其他的脱髓鞘病变如肾上腺脑白质营养不良症其外周活动性的脱髓鞘病变可以强化。

3.Insufficient or poorly working myelin causes a number of diseases, including a rare and fatal congenital disorder called pediatric leukodystrophy that affects thousands of children.

髓磷脂不足或工作状态差可导致一系列疾病，包括影响几千个孩子的一种罕见与致命的遗传病：小儿脑白质营养不良。

4.Families affected by leukodystrophy often seek support from specialized organizations.

受白质营养不良症影响的家庭通常寻求专业组织的支持。

5.Symptoms of leukodystrophy can include developmental delays and motor difficulties.

白质营养不良症的症状可能包括发育迟缓和运动困难。

6.Early diagnosis of leukodystrophy is crucial for better management of the disease.

对白质营养不良症的早期诊断对于更好地管理疾病至关重要。

7.Research is ongoing to find effective treatments for leukodystrophy.

研究正在进行，以寻找有效的白质营养不良症治疗方法。

8.The doctor diagnosed the child with leukodystrophy, a condition that affects the white matter of the brain.

医生诊断孩子患有白质营养不良症，这是一种影响大脑白质的疾病。

作文

Leukodystrophy is a term that refers to a group of rare genetic disorders that affect the white matter of the brain. These disorders are characterized by the degeneration of myelin, which is the protective sheath that surrounds nerve fibers. Myelin is essential for the proper functioning of the nervous system, as it allows for the efficient transmission of electrical signals between neurons. When myelin is damaged or destroyed, it can lead to a variety of neurological problems, including cognitive decline, motor dysfunction, and sensory impairments. The impact of leukodystrophy (白质营养不良) on individuals and their families can be profound, making early diagnosis and intervention critical.There are several types of leukodystrophy (白质营养不良), each caused by different genetic mutations. One of the most well-known forms is Krabbe disease, which results from a deficiency in the enzyme galactocerebrosidase. This enzyme is necessary for the breakdown of certain lipids in the brain, and its absence leads to the accumulation of toxic substances that damage myelin. Symptoms of Krabbe disease typically appear in infancy and can include irritability, muscle stiffness, and developmental delays.Another type of leukodystrophy (白质营养不良) is adrenoleukodystrophy (ALD), which primarily affects males and is linked to abnormalities in the metabolism of very long-chain fatty acids. ALD can manifest in childhood or adulthood, leading to progressive neurological decline and adrenal insufficiency. The emotional toll on families dealing with leukodystrophy (白质营养不良) is immense, as they often face uncertainty regarding the progression of the disease and the quality of life for their loved ones.Diagnosis of leukodystrophy (白质营养不良) typically involves a combination of clinical evaluation, genetic testing, and advanced imaging techniques such as MRI. Early detection is vital, as some forms of leukodystrophy (白质营养不良) may be amenable to treatment options, including enzyme replacement therapy or hematopoietic stem cell transplantation.Research into leukodystrophy (白质营养不良) is ongoing, with scientists striving to better understand the underlying mechanisms of these disorders and develop effective therapies. Support groups and advocacy organizations play a crucial role in raising awareness about leukodystrophy (白质营养不良) and providing resources for affected families. These organizations not only offer emotional support but also help connect families with clinical trials and cutting-edge treatments.In conclusion, leukodystrophy (白质营养不良) encompasses a range of serious genetic disorders that have a significant impact on both individuals and their families. As research continues to advance, there is hope for improved diagnostic methods and treatment options that can enhance the quality of life for those affected by these challenging conditions. Awareness and understanding of leukodystrophy (白质营养不良) are essential in fostering a supportive community for patients and their families, ultimately leading to better outcomes and a brighter future.

白质营养不良是一个术语，指的是一组影响大脑白质的罕见遗传性疾病。这些疾病的特点是髓鞘的退化，髓鞘是包围神经纤维的保护鞘。髓鞘对神经系统的正常功能至关重要，因为它使电信号在神经元之间高效传递。当髓鞘受损或破坏时，可能会导致多种神经问题，包括认知衰退、运动功能障碍和感官障碍。白质营养不良对个人及其家庭的影响可能是深远的，因此早期诊断和干预至关重要。有几种类型的白质营养不良，每种类型都是由不同的基因突变引起的。其中一种最著名的形式是克拉贝病，它是由酶galactocerebrosidase缺乏引起的。这种酶对于大脑中某些脂质的分解是必要的，其缺失导致有毒物质的积累，损害髓鞘。克拉贝病的症状通常在婴儿期出现，可能包括易怒、肌肉僵硬和发育迟缓。另一种类型的白质营养不良是肾上腺白质营养不良（ALD），它主要影响男性，并与非常长链脂肪酸的代谢异常有关。ALD可以在儿童或成年期表现出来，导致逐渐的神经衰退和肾上腺功能不全。面对白质营养不良的家庭，情感负担是巨大的，因为他们常常面临疾病进展和亲人生活质量的不确定性。白质营养不良的诊断通常涉及临床评估、基因检测和先进成像技术（如MRI）的组合。早期检测至关重要，因为某些类型的白质营养不良可能适合治疗选择，包括酶替代疗法或造血干细胞移植。对白质营养不良的研究正在进行中，科学家们努力更好地理解这些疾病的基本机制并开发有效的疗法。支持团体和倡导组织在提高对白质营养不良的认识和为受影响家庭提供资源方面发挥着关键作用。这些组织不仅提供情感支持，还帮助家庭与临床试验和前沿治疗相连接。总之，白质营养不良包含一系列严重的遗传性疾病，对个人及其家庭产生重大影响。随着研究的不断进展，我们对改善诊断方法和治疗选择充满希望，这些方法和选择能够增强受这些挑战性疾病影响的人们的生活质量。提高对白质营养不良的认识和理解对于促进患者及其家庭的支持社区至关重要，最终将带来更好的结果和更美好的未来。