RT Book, Section
A1 Hildebrandt, Friedhelm
A2 Rudolph, Colin D.
A2 Rudolph, Abraham M.
A2 Lister, George E.
A2 First, Lewis R.
A2 Gershon, Anne A.
SR Print(0)
ID 7045120
T1 Chapter 470. Cystic Diseases of the Kidney
T2 Rudolph's Pediatrics, 22e
YR 2011
FD 2011
PB The McGraw-Hill Companies
PP New York, NY
SN 978-0-07-149723-7
LK accesspediatrics.mhmedical.com/content.aspx?aid=7045120
RD 2024/04/23
AB Virtually  all  renal  cystic  illnesses  are  monogenic  diseases  (Table  470-1).  A  recent  unifying  theory  of  their  pathophysiology  suggests  that  all  gene  products  (“cystoproteins”)  that  are  mutated  in  cystic  kidney  diseases  are  expressed  in  primary  cilia,  basal  bodies,  or  centrosomes.1-4  Primary  cilia  are  antennalike  cellular  organelles  produced  by  virtually  every  epithelial  cell  type  in  the  body.  The  structure  and  function  of  primary  cilia  and  basal  bodies  is  delineated  in  eFig.  470.1.5,6  They  are  important  for  perceiving  extracellular  cues,  including  photosensation,  mechanosensation,  osmosensation,  and  olfactory  sensation.  Cilia  are  assembled  from  basal  bodies,  which  represent  one  of  the  two  centrosomes.  Centrosomes  and  basal  bodies  contain  the  same  protein  complexes  that  are  part  of  the  mitotic  spindle  in  mitosis.  These  protein  complexes  are  crucial  for  planar  cell  polarity,  or  the  orientation  of  epithelial  cells  in  three-dimensional  space.  Disruption  of  their  function  leads  to  cyst  development  and  to  extrarenal  defects  that  have  been  summarized  under  the  term  ciliopathies.  In  general,  it  seems  that  the  pathogenesis  of  ciliopathies  is  based  on  an  inability  of  epithelial  cells  to  sense  or  process  extracellular  cues.7