RT Book, Section
A1 Hildebrandt, Friedhelm
A2 Kline, Mark W.
SR Print(0)
ID 1182912325
T1 Cystic Diseases of the Kidney
T2 Rudolph's Pediatrics, 23e
YR 2018
FD 2018
PB McGraw-Hill Education
PP New York, NY
SN 9781259588594
LK accesspediatrics.mhmedical.com/content.aspx?aid=1182912325
RD 2024/04/25
AB Virtually  all  renal  cystic  illnesses  are  monogenic  diseases  (Table  466-1).  A  recent  unifying  theory  of  their  pathophysiology  suggests  that  all  gene  products  (“cystoproteins”)  that  are  mutated  in  cystic  kidney  diseases  localize  to  primary  cilia,  basal  bodies,  or  centrosomes.  Primary  cilia  are  antenna-like  cellular  organelles  produced  by  virtually  every  cell  type  in  the  body.  They  are  important  for  perceiving  extracellular  cues,  including  photosensation,  mechanosensation,  osmosensation,  and  olfactory  sensation.  Cilia  are  assembled  from  basal  bodies,  which  represent  1  of  the  2  centrosomes.  Centrosomes  and  basal  bodies  contain  some  of  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  3-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.