Gabow P A, Kimberling W J, Strain J D, Manco-Johnson M L, Johnson A M
University of Colorado Health Sciences Center, Denver, USA.
J Am Soc Nephrol. 1997 Jan;8(1):105-10. doi: 10.1681/ASN.V81105.
To determine the utility of ultrasonography (US) in diagnosing autosomal dominant polycystic kidney disease (ADPKD) in children, this study examined 106 children who were at 50% risk for the disease. The children underwent a history, physical examination, abdominal US, and gene linkage analysis (GLA) with tightly linked markers for ADPKD1 and ADPKD2 genes. Only ADPKD1 children were studied. A child was considered affected by US if any cysts were detected and affected by GLA if he or she shared the same haplotype as the affected parent. Forty-two children (40%) were considered to be unaffected by both GLA and US. Forty-eight children (45%) were considered affected by both modalities. Only two of these children had a single cyst. Fourteen children (13%) were considered affected by GLA with normal initial US. These children tended to have larger kidneys than children who were unaffected by GLA. Eight of these 14 children had subsequent positive ultrasonograms. Two children had a positive ultrasonogram with GLA showing them to be unaffected; in one of these children, a subsequent ultrasonogram was interpreted to be normal with a medullary pyramid. Thus, overall the false negative rate was 25%, and the false positive rate was 2%. The false negative rate was highest in the children who were 3 months to 5 years of age (38%). Clinicians must understand the utility of US in diagnosing ADPKD in at-risk children and must not interpret a normal study as absence of disease in this population.
为了确定超声检查（US）在诊断儿童常染色体显性多囊肾病（ADPKD）中的效用，本研究对106名患病风险为50%的儿童进行了检查。这些儿童接受了病史询问、体格检查、腹部超声检查以及针对ADPKD1和ADPKD2基因的紧密连锁标记的基因连锁分析（GLA）。仅对携带ADPKD1基因的儿童进行了研究。如果检测到任何囊肿，则认为该儿童通过超声检查确诊患病；如果该儿童与患病父母具有相同的单倍型，则认为其通过基因连锁分析确诊患病。42名儿童（40%）被认为通过基因连锁分析和超声检查均未患病。48名儿童（45%）被认为通过这两种方法均确诊患病。这些儿童中只有两名有单个囊肿。14名儿童（13%）被认为通过基因连锁分析确诊患病，但初始超声检查正常。这些儿童的肾脏往往比未通过基因连锁分析确诊患病的儿童更大。这14名儿童中有8名随后超声检查结果呈阳性。两名儿童超声检查结果呈阳性，但基因连锁分析显示其未患病；在其中一名儿童中，随后的超声检查结果被解读为髓质锥体正常。因此，总体而言，假阴性率为25%，假阳性率为2%。假阴性率在3个月至5岁的儿童中最高（38%）。临床医生必须了解超声检查在诊断高危儿童ADPKD中的效用，且绝不能将该人群中检查结果正常解读为未患病。
