RT Book, Section
A1 Irazabal, Maria V.
A1 Torres, Vicente
A2 Murray, Michael F.
A2 Babyatsky, Mark W.
A2 Giovanni, Monica A.
A2 Alkuraya, Fowzan S.
A2 Stewart, Douglas R.
SR Print(0)
ID 1102706020
T1 Cystic Diseases of the Kidney, Polycystic Kidney Disease
T2 Clinical Genomics: Practical Applications in Adult Patient Care
YR 2014
FD 2014
PB McGraw-Hill Education
PP New York, NY
SN 9780071622448
LK accessmedicine.mhmedical.com/content.aspx?aid=1102706020
RD 2024/04/19
AB Disease  summary:Cystic  diseases  of  the  kidney  are  a  heterogeneous  group  of  hereditary,  developmental,  or  acquired  disorders  that  have  in  common  the  presence  of  renal  cysts.A  renal  cyst  is  a  fluid-filled  cavity  lined  by  epithelial  cells  that  derives  primarily  from  the  renal  tubules,  loosing  its  connection  with  their  origin  tubule  once  developed.Polycystic  kidney  disease  (PKD)  is  a  group  of  monogenic  disorders  that  result  in  renal  cyst  development,  being  autosomal  dominant  polycystic  kidney  disease  (ADPKD)  and  autosomal  recessive  polycystic  kidney  disease  (ARPKD)  the  most  common  forms.ADPKD,  caused  by  mutation  in  PKD1  or  PKD2,  is  generally  a  late-onset  multisystem  disorder  characterized  predominantly  by  bilateral  renal  cysts  and  variable  extra  renal  manifestations  (extrarenal  cysts,  cardiac  valvular  defects,  arterial  aneurysms,  colonic  diverticulosis,  abdominal  wall  hernias)ARPKD,  most  commonly  affecting  newborns  and  young  children,  is  caused  by  mutation  in  PKHD1  and  is  characterized  by  enlarged  echogenic  kidneys  and  congenital  hepatic  fibrosis.Hereditary  basis:ADPKD  is  the  most  frequent  inherited  renal  disorder  (1  in  400-1000)  and  follows  an  autosomal  dominant  inheritance  pattern  with  complete  penetrance  and  high  intrafamilial  variability.ARPKD  follows  an  autosomal  recessive  inheritance  with  an  incidence  of  approximately  1:20.000;  the  frequency  of  heterozygosity  is  approximately  1:70.Differential  diagnosis:Cystic  diseases  in  the  differential  diagnosis  of  ADPKD:  ARPKD,  other  systemic  diseases  associated  with  renal  cysts  such  as  tuberous  sclerosis  complex  (TSC),  von  Hippel-Lindau  disease  (VHL),  and  orofacial  digital  syndrome  type  1  (OFDS),  acquired  renal  cystic  disease  (ARCD)  in  patients  with  end-stage  renal  disease  (ESRD),  medullary  sponge  kidney,  and  simple  cysts  (Table  144-1).Cystic  diseases  in  the  differential  diagnosis  of  ARPKD:  early-manifesting  ADPKD,  a  group  of  inherited  pleiotropic  disorders  causing  polycystic  kidneys  (nephronophthisis  [NPHP],  Joubert  syndrome  and  related  disorders  [JSRD],  Meckel  syndrome  [MKS],  Bardet-Biedl  syndrome  [BBS]),  glomerulocystic  kidney  disease,  and  diffuse  cystic  dysplasia.