【佳學(xué)基因檢測】X-ALD基因解碼、基因檢測

基因解碼導(dǎo)讀：

X-ALD是英文X-linked adrenoleukodystrophy，中文全稱是X連鎖腎上腺腦白質(zhì)營養(yǎng)不良。

什么樣的人應(yīng)當(dāng)做X-ALD基因解碼、基因檢測？

有三種不同的X連鎖腎上腺腦白質(zhì)營養(yǎng)不良：兒童腦型，腎上腺脊髓神經(jīng)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的常規(guī)臨床檢查

腎上腺腦白質(zhì)營養(yǎng)不良的診斷依靠以下檢查：①CT和MRI；②電生理檢查，兒童ALD早期誘發(fā)電位和神經(jīng)傳導(dǎo)速度正常。成人AMN時(shí)神經(jīng)傳導(dǎo)速度減慢，腦干聽覺誘發(fā)電位有異常；③腦脊液，ALD大多正常，可有蛋白和細(xì)胞數(shù)稍增高。NALD常見腦脊液蛋白增高；④血漿和皮膚成纖維細(xì)胞中VLCFA增高，特別是C26脂肪酸增高，C26/C22比值增加，有診斷意義；⑤在發(fā)生腎上腺皮質(zhì)功能不全的阿狄森氏危象時(shí)，血中皮質(zhì)醇減低，在不發(fā)生危象時(shí)， ACTH刺激試驗(yàn)也能發(fā)現(xiàn)腎上腺代償儲(chǔ)備減少。對于男性Addison病，即使未見神經(jīng)系統(tǒng)癥狀，也應(yīng)檢測VLCFA，以免漏診。

X-ALD基因解碼

佳學(xué)基因解碼根據(jù)《人的基因序列變化與人體疾病表征數(shù)據(jù)庫》，發(fā)現(xiàn)并鑒定了導(dǎo)致X連鎖腎上腺腦白質(zhì)營養(yǎng)不良致病基因。這個(gè)基因編碼、控制生成人體中的一個(gè)必不可少的蛋白質(zhì)，這個(gè)蛋白質(zhì)叫做腎上腺腦白質(zhì)蛋白。它可以選擇性地轉(zhuǎn)移一種叫做極長鏈脂肪酸的物質(zhì)進(jìn)入過氧化物酶體，過氧化物酶體繼續(xù)對這物質(zhì)進(jìn)行加工處理。X連鎖腎上腺腦白質(zhì)營養(yǎng)不良基因的一種突變會(huì)導(dǎo)致腎上腺腦白質(zhì)蛋白合成不足。佳學(xué)基因發(fā)現(xiàn)，這會(huì)引起人體內(nèi)極長鏈脂肪酸的轉(zhuǎn)移和隨后的降解出現(xiàn)異常。極長鏈脂肪酸的堆積對腎上腺皮質(zhì)和髓鞘質(zhì)產(chǎn)生毒性。激發(fā)產(chǎn)生大腦內(nèi)部的炎癥發(fā)應(yīng)，造成髓鞘質(zhì)的降解。這些組織損傷是產(chǎn)生X連鎖腎上腺腦白質(zhì)營養(yǎng)不良一系列疾病現(xiàn)象的本質(zhì)基礎(chǔ)。

X-ALD基因解碼可以區(qū)分：

X-ALD基因解碼的其他名字

• Addison disease and cerebral sclerosis
• melanodermic leukodystrophy
• Schilder-Addison Complex
• Schilder disease
• Siemerling-Creutzfeldt disease
• X連鎖腎上腺腦白質(zhì)營養(yǎng)不良

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