Polycystic Kidney Disease without an Apparent Family History

• Published in: Journal of the American Society of Nephrology Vol. 28; no. 9; pp. 2768 - 2776
• Main Authors: Iliuta, Ioan-Andrei, Kalatharan, Vinusha, Wang, Kairong, Cornec-Le Gall, Emilie, Conklin, John, Pourafkari, Marina, Ting, Ryan, Chen, Chen, Borgo, Alessia C., He, Ning, Song, Xuewen, Heyer, Christina M., Senum, Sarah R., Hwang, Young-Hwan, Paterson, Andrew D., Harris, Peter C., Khalili, Korosh, Pei, York
• Format: Journal Article
• Language: English
• Published: United States American Society of Nephrology 01.09.2017
• Subjects: Adult; Aged; Aged, 80 and over; Clinical Research; DNA Mutational Analysis; Female; Germ-Line Mutation; Humans; Male; Medical History Taking; Middle Aged; Mosaicism; Parents; Pedigree; Polycystic Kidney, Autosomal Dominant - diagnostic imaging; Polycystic Kidney, Autosomal Dominant - genetics; Polycystic Kidney, Autosomal Dominant - physiopathology; TRPP Cation Channels - genetics; human genetics; polycystic kidney disease; family history

The absence of a positive family history (PFH) in 10%–25% of patients poses a diagnostic challenge for autosomal dominant polycystic kidney disease (ADPKD). In the Toronto Genetic Epidemiology Study of Polycystic Kidney Disease, 210 affected probands underwent renal function testing, abdominal imagi...