Abstract
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 imaging, and comprehensive PKD1 and PKD2 mutation screening. From this cohort, we reviewed all patients with and without an apparent family history, examined their parental medical records, and performed renal imaging in all available parents of unknown disease status. Subsequent reclassification of 209 analyzed patients revealed 72.2% (151 of 209) with a PFH, 15.3% (32 of 209) with de novo disease, 10.5% (22 of 209) with an indeterminate family history, and 1.9% (four of 209) with PFH in retrospect. Among the patients with de novo cases, we found two families with germline mosaicism and one family with somatic mosaicism. Additionally, analysis of renal imaging revealed that 16.3% (34 of 209) of patients displayed atypical PKD, most of which followed one of three patterns: asymmetric or focal PKD with PFH and an identified PKD1 or PKD2 mutation (15 of 34), asymmetric and de novo PKD with proven or suspected somatic mosaicism (seven of 34)...Continue Reading
References
Jan 13, 2001·American Journal of Human Genetics·Y PeiP St George-Hyslop
Feb 15, 2001·Trends in Genetics : TIG·B GottliebM A Trifiro
May 5, 2001·Genome Research·P C Ng, S Henikoff
Oct 13, 2006·Journal of the American Society of Nephrology : JASN·Peter C HarrisJ Philip Miller
Jun 22, 2007·Journal of the American Society of Nephrology : JASN·Sandro RossettiUNKNOWN CRISP Consortium
Aug 21, 2007·Clinical Journal of the American Society of Nephrology : CJASN·Benjamin CheongScott D Flamm
Jul 22, 2008·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Berenice ReedRobert W Schrier
Sep 27, 2008·Kidney International·Mark B ConsugarUNKNOWN CRISP Consortium
Oct 24, 2008·Journal of the American Society of Nephrology : JASN·York PeiDavid Ravine
Jan 23, 2009·Clinical Journal of the American Society of Nephrology : CJASN·Kiarong WangYork Pei
Jan 24, 2009·Kidney International·Sandro RossettiPeter C Harris
Apr 3, 2009·Nucleic Acids Research·François-Olivier DesmetChristophe Béroud
Apr 1, 2010·Nature Methods·Ivan A AdzhubeiShamil R Sunyaev
Sep 3, 2010·Seminars in Nephrology·Moumita Barua, York Pei
Aug 25, 2011·Nature Reviews. Nephrology·Jared J GranthamKatherine I Swenson-Fields
Oct 28, 2011·Kidney International·York PeiTerry Watnick
Mar 3, 2012·Journal of the American Society of Nephrology : JASN·Sandro RossettiPeter C Harris
Oct 12, 2012·PloS One·Yongwook ChoiAgnes P Chan
Feb 23, 2013·Journal of the American Society of Nephrology : JASN·Emilie Cornec-Le GallYannick Le Meur
Jun 7, 2014·Journal of the American Society of Nephrology : JASN·María V IrazabalUNKNOWN CRISP Investigators
Jul 31, 2014·Journal of the American Society of Nephrology : JASN·York PeiMasoom A Haider
Dec 17, 2014·Genes·Donald FreedJonathan Pevsner
Apr 26, 2015·Trends in Genetics : TIG·Ian M CampbellJames R Lupski
Oct 11, 2015·Journal of the American Society of Nephrology : JASN·Young-Hwan HwangYork Pei
Jan 30, 2016·Journal of the American Society of Nephrology : JASN·Christina M HeyerUNKNOWN HALT PKD and CRISP Investigators
Jun 4, 2016·American Journal of Human Genetics·Binu PorathPeter C Harris
Citations
Mar 10, 2018·Clinical Genetics·T FujimaruE Sohara
Oct 11, 2017·Nature Reviews. Nephrology·Matthew B Lanktree, Arlene B Chapman
Jan 13, 2018·Frontiers in Pediatrics·Stéphanie De RechterDjalila Mekahli
Jan 18, 2018·PloS One·Andrea SolazzoRiccardo Magistroni
Jan 15, 2019·Journal of Magnetic Resonance Imaging : JMRI·Weiguo ZhangMartin R Prince
Jan 16, 2019·Journal of Cellular Physiology·Talieh MalekshahabiReza Moghadasali
Feb 27, 2019·European Radiology·Kotaro YoshidaVicente E Torres
Oct 19, 2017·Journal of the American Society of Nephrology : JASN·Emilie Cornec-Le GallPeter C Harris
Jan 9, 2018·Nature Reviews. Nephrology·Olivier Devuyst
May 24, 2019·Nature Reviews. Nephrology·Charlotte GimpelFranz Schaefer
Oct 20, 2018·BMC Medical Genetics·Wen-Bin HeJuan Du
Oct 23, 2018·Canadian Journal of Kidney Health and Disease·Steven SorokaDaniel G Bichet
Jun 26, 2020·Frontiers in Pediatrics·Hiroki YokoyamaNoriyuki Namba
Jul 22, 2020·Clinical Journal of the American Society of Nephrology : CJASN·Matthew B LanktreeYork Pei
Jul 14, 2019·BMC Nephrology·Yoshihiko YuLeslie A Lyons
Apr 7, 2018·Frontiers in Pediatrics·Roman-Ulrich Müller, Thomas Benzing
Feb 23, 2019·Frontiers in Genetics·Elizabeth WaldropTetyana L Vasylyeva
Aug 31, 2018·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Matthew B LanktreeYork Pei
Jul 14, 2020·Klinische Pädiatrie·Charlotte GimpelFranz Schaefer
Dec 14, 2018·Nature Reviews. Disease Primers·Carsten BergmannVicente E Torres
Jul 25, 2019·BMC Nephrology·Bogdan Marian SorohanCătălin Baston
Jan 14, 2021·European Journal of Human Genetics : EJHG·Amali C MallawaarachchiTimothy J Furlong
Dec 15, 2019·Seminars in Nephrology·Marieta TheodorakopoulouPantelis Sarafidis
Mar 7, 2021·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Eleanor HayAngela Barnicoat
Feb 20, 2021·Clinical Journal of the American Society of Nephrology : CJASN·Matthew B LanktreeYork P C Pei
May 4, 2021·Journal of Assisted Reproduction and Genetics·Yuqian WangLiying Yan
May 26, 2021·Journal of Cellular and Molecular Medicine·Hua-Ying HuZu-Guo Liu
Jul 13, 2021·Frontiers in Genetics·Jonathan de FalloisJan Halbritter
Jul 9, 2021·The Korean Journal of Internal Medicine·Yun Kyu OhKook-Hwan Oh
Aug 7, 2021·Journal of Nephrology·Elisa DelbarbaClaudia Izzi
May 1, 2018·American Journal of Human Genetics·Emilie Cornec-Le GallPeter C Harris