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這通常在患者出現與此症相關的症狀後,經由醫護人員進一步檢驗以作確診。例如,ADPKD 患者很可能較一般人容易出現高血壓,而恆常測試亦顯示此情況(1,2)。尿液測試也可發現與 ADPKD 相關的血液跡象(1,2)。詳情請參考本網頁「ADPKD 的症狀及進展」。

 

ADPKD 症狀可能與其他疾病有關,因此難以單憑這些症狀來確診(2)。然而,ADPKD 患者如有已知其家族病史,會有助確診。某些個案可能只有很少甚至完全沒有症狀,直至疾病惡化。換言之,有些人可能在患病多年後才確診(1,3,4)

 

但對於大部分個案而言,主要透過進行超聲波掃描發現囊腫,從而確診ADPKD;而磁力共振造影、電腦掃描和其他掃描也可有助確診(1)


 1. PKD International website. What is ADPKD. Available from http://www.pkdinternational.org/what-is-pkd/adpkd (last accessed August 2015)

2. PKD Charity website. How is ADPKD diagnosed. Available from http://pkdcharity.org.uk/aboutdpkd/just-diagnosed/how-is-adpkd-diagnosed (last accessed August 2015)

3. Chapman AB, et al. Renal structure in early autosomal-dominant polycystic kidney disease (ADPKD): The Consortiun for Radiologic Imaging Studies of Polycystic Kidney Disease (CRISP) cohort. Kidney International. 2003; 64(3):1035-1045

4. Thong KM, Ong AC. The natural history of autosomal dominant polycystic kidney disease: 30-year experience from a single center. QJM. 2013; 106(7):639-646

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