Age at clinical onset and at ultrasonographic detection of adult polycystic kidney disease: Data for genetic counselling

作者：John C. Bear, Patrick J. McManamon, J.G. Morgan, Ronald H. Payne, Heather Lewis, M. HENRY GAULT, David N. Churchill, John M. Opitz · 发表于：American Journal of Medical Genetics · 年份：1984 · DOI：10.1002/ajmg.1320180108 · 被引用次数：169 · 研究领域：Genetic and Kidney Cyst Diseases、Cystic Fibrosis Research Advances、Prenatal Screening and Diagnostics

Few reports are available on the age-related risk of relatives of affected persons to manifest adult polycystic kidney disease (APKD). For 371 persons in 17 kindreds, at risk for APKD by virtue of having an affected first degree relative, we calculated the estimated probability of clinical diagnosis of APKD to be 0.011 by age 20, 0.041 by age 30, 0.115 by age 40, 0.299 by age 50, and 0.404 by age 60 years (expected = 0.50). Ultrasonographic examination of 172 asymptomatic persons at risk showed definite APKD in 60. The probability of ultrasonographic detection of asymptomatic APKD is estimated as 0.222, 0.657, and 0.855 at age 5, 15, and 25 years, respectively. The probability of having APKD following normal ultrasonogram results (conservatively assuming 90% specificity) is estimated as 0.46, 0.28, and 0.14 for persons at 50% risk in their first, second, or third decade. The marginal benefit of ultrasound as a diagnostic test for APKD for persons in the second or third decade is estimated as 0.37 and 0.41, respectively for a "positive" test and 0.22 and 0.37 for a "negative" test.