Diagnostic evaluation of adult polycystic kidney disease in childhood

Since adult polycystic kidney disease, an autosomal-dominant disease, results in renal failure in at least 50% of affected patients, its detection before childbearing age is desirable. To evaluate this capability and the preferred screening technique, 28 members of two generations of an affected kindred were studied. Sonograms, excretory urograms with nephrotomograms, and clinical laboratory evaluation were compared. Five of six studied members of the older generation had cysts demonstrated by both sonograms and excretory urograms with nephrotomograms. Eleven of 22 members of the younger generation were affected, the youngest being 5 years old. In this group, excretory urograms with nephrotomograms were a slightly more sensitive detector, especially in the younger patients. However, sonography provided sufficient sensitivity in the older child, and, because of its noninvasive nature, was the preferred screening technique. The clinical laboratory evaluation was of little diagnostic aid in children with adult-type polycystic disease.
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