【佳學(xué)基因檢測】腎消耗病樣腎病如何確診?

疾病確診導(dǎo)讀：

腎消耗病樣腎病是兒科的一種疾病。根據(jù)《人的基因序列變化與人體疾病表征》，該病是與兒科相關(guān)的基因病。佳學(xué)基因可以提供這類疾病的基因解碼、基因檢測,輔助臨床進(jìn)行確診。

腎消耗病樣腎病疾病介紹：

Nephronophthisis (NPH) is an autosomal recessive disease characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form). In the juvenile form, a urine concentration defect starts during the first decade, and a progressive deterioration of renal function is observed in the following years. Kidney size may be normal, but loss of corticomedullary differentiation is often observed, and cysts occur usually after patients have progressed to end-stage renal failure. Histologic lesions are characterized by tubular basement membrane anomalies, tubular atrophy, and interstitial fibrosis. The infantile form is characterized by cortical microcysts and progression to end-stage renal failure before 5 years of age. Some children present with extrarenal symptoms: retinitis pigmentosa (Senior-L?ken syndrome), mental retardation, cerebellar ataxia, bone anomalies, or liver fibrosis. Positional cloning and candidate gene approaches led to the identification of eight causative genes (NPHP1, 3, 4, 5, 6, 7, 8, and 9) responsible for the juvenile NPH and one gene NPHP2 for the infantile form. NPH and associated disorders are considered as ciliopathies, as all NPHP gene products are expressed in the primary cilia, similarly to the polycystic kidney disease (PKD) proteins.

腎消耗病樣腎病基因解碼

根據(jù)《人的基因序列變化與人體疾病表征》，過去有部分機構(gòu)和醫(yī)務(wù)人員認(rèn)為腎消耗病樣腎病不是遺傳性疾病，甚至有人認(rèn)為該病不是由基因引起的，腎消耗病樣腎病發(fā)生的內(nèi)在基因原因被忽視。佳學(xué)基因通過基因解碼找到并定位了導(dǎo)致這一疾病發(fā)生的原因，提出了腎消耗病樣腎病的遺傳風(fēng)險，并建議通過基因檢測明確和排除風(fēng)險，讓后代、二胎不再患有腎消耗病樣腎病，實現(xiàn)腎消耗病樣腎病遺傳阻斷的目的。

腎消耗病樣腎病風(fēng)險基因檢測在哪兒做比較好？

首先要查找可以進(jìn)行腎消耗病樣腎病基因檢測的機構(gòu)。進(jìn)入這家機構(gòu)的官網(wǎng)或者是微信公眾號，看檢測機構(gòu)是否可以對腎消耗病樣腎病進(jìn)行檢測。佳學(xué)基因的檢測項目比較多，在網(wǎng)頁上有一個很好用的搜索工具，在上面搜索腎消耗病樣腎病，可以看到佳學(xué)基因可以做腎消耗病樣腎病的基因解碼、基因檢測、基因篩查和風(fēng)險評估。就這一點，說明檢測機構(gòu)對腎消耗病樣腎病的研究比較清楚，可以根據(jù)需要設(shè)計不同的檢測項目?？梢赃M(jìn)行腎消耗病樣腎病的風(fēng)險檢測是確定無疑的了。

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