Ravine D, Gibson R N, Walker R G, Sheffield L J, Kincaid-Smith P, Danks D M
Murdoch Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.
Lancet. 1994 Apr 2;343(8901):824-7. doi: 10.1016/s0140-6736(94)92026-5.
Although ultrasound is commonly used for screening subjects at risk of polycystic kidney disease 1 (PKD1), there has been no evaluation of ultrasonographic diagnostic criteria. We used DNA linkage among subjects from 128 sibships within 18 PKD1 families as the basis for an assessment of ultrasound sensitivity. Positive and negative predictive values were calculated to allow assessment of different diagnostic cut-off points in previously undiagnosed cases. Currently used criteria (bilateral cysts with at least two in one kidney) provided good sensitivity (88.5% at age 15-29 years and 100% at 30 years and above) but performance could be improved by less stringent criteria in subjects aged 15-29 years and more stringent criteria in older family members, in whom simple renal cysts are frequent. The presence of at least two renal cysts (unilateral or bilateral) in individuals at risk and younger than 30 years may be regarded as sufficient to establish a diagnosis; among those aged 30-59 years, the presence of at least two cysts in each kidney may be required, and among those aged 60 years and above, at least four cysts in each kidney should be required.
尽管超声常用于筛查多囊肾病1型（PKD1）的高危人群，但尚未对超声诊断标准进行评估。我们以18个PKD1家族中128个同胞对的DNA连锁分析为基础，评估超声的敏感性。计算阳性和阴性预测值，以便评估既往未诊断病例中不同的诊断切点。目前使用的标准（双侧囊肿，一侧肾脏至少有两个囊肿）具有良好的敏感性（15 - 29岁时为88.5%，30岁及以上时为100%），但对于15 - 29岁的人群，采用不太严格的标准，而对于年龄较大的家庭成员（他们中单纯性肾囊肿很常见）采用更严格的标准，诊断性能可能会得到改善。对于处于风险中的30岁以下个体，至少有两个肾囊肿（单侧或双侧）可能足以确诊；对于30 - 59岁的人群，可能需要每个肾脏至少有两个囊肿，而对于60岁及以上的人群，每个肾脏至少需要有四个囊肿。
