【佳学基因检测】X-ALD基因解码、基因检测

基因解码导读：

X-ALD是英文X-linked adrenoleukodystrophy，中文全称是X连锁肾上腺脑白质营养不良。

什么样的人应当做X-ALD基因解码、基因检测？

有三种不同的X连锁肾上腺脑白质营养不良：儿童脑型，肾上腺脊髓神经病和艾迪生病。

Children with the cerebral form of X-linked adrenoleukodystrophy experience learning and behavioral problems that usually begin between the ages of 4 and 10. Over time the symptoms worsen, and these children may have difficulty reading, writing, understanding speech, and comprehending written material. Additional signs and symptoms of the cerebral form include aggressive behavior, vision problems, difficulty swallowing, poor coordination, and impaired adrenal gland function. The rate at which this disorder progresses is variable but can be extremely rapid, often leading to total disability within a few years. The life expectancy of individuals with this type depends on the severity of the signs and symptoms and how quickly the disorder progresses. Individuals with the cerebral form of X-linked adrenoleukodystrophy usually survive only a few years after symptoms begin but may survive longer with intensive medical support.
 

Signs and symptoms of the adrenomyeloneuropathy type appear between early adulthood and middle age. Affected individuals develop progressive stiffness and weakness in their legs (paraparesis), experience urinary and genital tract disorders, and often show changes in behavior and thinking ability. Most people with the adrenomyeloneuropathy type also have adrenocortical insufficiency. In some severely affected individuals, damage to the brain and nervous system can lead to early death.

People with X-linked adrenoleukodystrophy whose only symptom is adrenocortical insufficiency are said to have the Addison disease only form. In these individuals, adrenocortical insufficiency can begin anytime between childhood and adulthood. However, most affected individuals develop the additional features of the adrenomyeloneuropathy type by the time they reach middle age. The life expectancy of individuals with this form depends on the severity of the signs and symptoms, but typically this is the mildest of the three types.

Rarely, individuals with X-linked adrenoleukodystrophy develop multiple features of the disorder in adolescence or early adulthood. In addition to adrenocortical insufficiency, these individuals usually have psychiatric disorders and a loss of intellectual function (dementia). It is unclear whether these individuals have a distinct form of the condition or a variation of one of the previously described types.

For reasons that are unclear, different forms of X-linked adrenoleukodystrophy can be seen in affected individuals within the same family.

 

X-ALD的常规临床检查

肾上腺脑白质营养不良的诊断依靠以下检查：①CT和MRI；②电生理检查，儿童ALD早期诱发电位和神经传导速度正常。成人AMN时神经传导速度减慢，脑干听觉诱发电位有异常；③脑脊液，ALD大多正常，可有蛋白和细胞数稍增高。NALD常见脑脊液蛋白增高；④血浆和皮肤成纤维细胞中VLCFA增高，特别是C26脂肪酸增高，C26/C22比值增加，有诊断意义；⑤在发生肾上腺皮质功能不全的阿狄森氏危象时，血中皮质醇减低，在不发生危象时， ACTH刺激试验也能发现肾上腺代偿储备减少。对于男性Addison病，即使未见神经系统症状，也应检测VLCFA，以免漏诊。

X-ALD基因解码

佳学基因解码根据《人的基因序列变化与人体疾病表征数据库》，发现并鉴定了导致X连锁肾上腺脑白质营养不良致病基因。这个基因编码、控制生成人体中的一个必不可少的蛋白质，这个蛋白质叫做肾上腺脑白质蛋白。它可以选择性地转移一种叫做极长链脂肪酸的物质进入过氧化物酶体，过氧化物酶体继续对这物质进行加工处理。X连锁肾上腺脑白质营养不良基因的一种突变会导致肾上腺脑白质蛋白合成不足。佳学基因发现，这会引起人体内极长链脂肪酸的转移和随后的降解出现异常。极长链脂肪酸的堆积对肾上腺皮质和髓鞘质产生毒性。激发产生大脑内部的炎症发应，造成髓鞘质的降解。这些组织损伤是产生X连锁肾上腺脑白质营养不良一系列疾病现象的本质基础。

X-ALD基因解码可以区分：

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X-ALD基因解码的其他名字

• Addison disease and cerebral sclerosis
• melanodermic leukodystrophy
• Schilder-Addison Complex
• Schilder disease
• Siemerling-Creutzfeldt disease
• X连锁肾上腺脑白质营养不良

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