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I have had the good fortune of watching, from the very beginning, the explosive increase in knowledge of renal cystic disorders over the last five decades. My personal interest began when my elementary school chum, Ronnie Wilkerson, told me he had polycystic kidney disease (PKD), knowing that one day it would take his life. Ultrasound detection of cysts had just been applied to diagnose PKD patients at the University of Colorado School of Medicine in Denver. In 1974, Joseph Holmes M.D. made the initial presentation of what has become the largest cohort of affected individuals at a single site in the United States. Ronnie’s name appears at an early position in that list. In his hour of need, however, there was no research to speak of except for long essays attempting to classify all of the inherited and acquired renal cystic disorders. These ended up becoming bewildering diatribes I have referred to, in a naughty mood, as “nattering nosology”.
The first successful effort to move beyond descriptive accounts of the disease can be attributed to O.Z. Dalgaard, a Danish geneticist who in 1957 defined the genetics of autosomal dominant (ADPKD), thereby proving that the etiology of the condition was harbored in defective DNA. This provided a huge lead toward finding the cause of the disease. Read more…..
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