Nicolau C, Torra R, Badenas C, Vilana R, Bianchi L, Gilabert R, Darnell A, Brú C
Department of Radiology, Hospital Clínic, University of Barcelona, Spain.
Radiology. 1999 Oct;213(1):273-6. doi: 10.1148/radiology.213.1.r99oc05273.
To estimate the sensitivity and specificity of ultrasonography (US) in the diagnosis of autosomal dominant polycystic kidney disease (ADPKD) types 1 and 2, as compared with those of genetic linkage analysis.
A renal US and DNA analysis for ADPKD was performed in 319 patients who were at risk, 161 of whom were younger than 30 years, from 54 families with ADPKD. The sensitivity of US for diagnosis was estimated by comparing the US results with genotypes inferred from linkage studies.
The sensitivity of US in individuals younger than 30 years who were at risk was 95% for ADPKD type 1 but only 67% for ADPKD type 2. The sensitivity of US for either ADPKD type 1 or ADPKD type 2 in individuals aged 30 years or older who were at risk was 100%. The overall sensitivity in individuals younger than 30 years was 93%. For both ADPKD types 1 and 2 in all patients, US demonstrated a sensitivity of 97%, a specificity of 100%, and an accuracy of 98%.
US is the first-line imaging technique that should be used in the diagnosis of ADPKD. The sensitivity in individuals aged 30 years or older is 100%, but if there is a clinical suspicion of ADPKD type 2 in individuals younger than 30 years, linkage analysis should also be considered.
与基因连锁分析相比，评估超声检查（US）对1型和2型常染色体显性多囊肾病（ADPKD）诊断的敏感性和特异性。
对来自54个患有ADPKD家庭的319名有患病风险的患者进行了肾脏超声检查及ADPKD的DNA分析，其中161名患者年龄小于30岁。通过将超声检查结果与从连锁研究推断出的基因型进行比较，评估超声检查诊断的敏感性。
年龄小于30岁的有患病风险个体中，超声检查对1型ADPKD的敏感性为95%，但对2型ADPKD仅为67%。年龄30岁及以上的有患病风险个体中，超声检查对1型或2型ADPKD的敏感性均为100%。年龄小于30岁个体的总体敏感性为93%。对于所有患者中的1型和2型ADPKD，超声检查的敏感性为97%，特异性为100%，准确性为98%。
超声检查是ADPKD诊断中应使用的一线成像技术。年龄30岁及以上个体的敏感性为100%，但如果临床怀疑年龄小于30岁的个体患有2型ADPKD，也应考虑进行连锁分析。
