RT Book, Section
A1 Zhou, Jing
A1 Pollak, Martin R.
A2 Jameson, J. Larry
A2 Fauci, Anthony S.
A2 Kasper, Dennis L.
A2 Hauser, Stephen L.
A2 Longo, Dan L.
A2 Loscalzo, Joseph
SR Print(0)
ID 1156563495
T1 Polycystic Kidney Disease and Other Inherited Disorders of Tubule Growth and Development
T2 Harrison's Principles of Internal Medicine, 20e
YR 2018
FD 2018
PB McGraw-Hill Education
PP New York, NY
SN 9781259644016
LK accessmedicine.mhmedical.com/content.aspx?aid=1156563495
RD 2024/04/25
AB The  polycystic  kidney  diseases  are  a  group  of  genetically  heterogeneous  disorders  and  a  leading  cause  of  kidney  failure.  The  autosomal  dominant  form  of  polycystic  kidney  disease  (ADPKD)  is  the  most  common  life-threatening  monogenic  disease,  affecting  12  million  people  worldwide.  The  autosomal  recessive  form  of  polycystic  kidney  disease  (ARPKD)  is  rarer  but  affects  the  pediatric  population.  Kidney  cysts  are  often  seen  in  a  wide  range  of  syndromic  diseases.  Recent  studies  have  shown  that  defects  in  the  structure  or  function  of  the  primary  cilia  may  underline  this  group  of  genetic  diseases  collectively  termed  ciliopathies(Table  309-1).