TY  - CHAP
M1  - Book, Section
TI  - Immotile Cilia Syndrome (Primary Ciliary Dyskinesia), Including Kartagener Syndrome
A1  - Afzelius, Björn A.
A1  - Mossberg, Björn
A1  - Bergström, Sten Erik
A2  - Valle, David L.
A2  - Antonarakis, Stylianos
A2  - Ballabio, Andrea
A2  - Beaudet, Arthur L.
A2  - Mitchell, Grant A.
Y1  - 2019
N1  - 10.1036/ommbid.220
T2  - The Online Metabolic and Molecular Bases of Inherited Disease
AB  - The  immotile  cilia  syndrome  is  a  genetically  determined  disorder  characterized  by  dysmotility  or  even  complete  immotility  of  the  cilia  in  the  airways  and  elsewhere.  Usually  spermatozoa  are  also  either  immotile  or  poorly  motile.Kartagener  syndrome  is  a  subgroup  of  the  immotile  cilia  syndrome  and  is  further  characterized  by  situs  inversus  viscerum.  Situs  inversus,  bronchiectasis,  and  chronic  sinusitis  form  the  classic  Kartagener  triad.The  reason  for  the  ciliary  immotility  or  dysmotility  usually  can  be  seen  with  an  electron-microscopic  investigation  of  a  ciliated  mucosal  biopsy  or  of  the  spermatozoa  of  an  ejaculate.  Certain  specific  defects  in  the  ciliary  axoneme  are  regarded  to  be  pathognomonic  of  the  syndrome,  principally  a  lack  of  dynein  arms.  Cilia  and  sperm  tails  normally  exhibit  the  same  defects  in  the  same  patient.  Motility  can  be  evaluated  by  light-microscopic  examination  of  living  cilia  or  spermatozoa  and  the  functional  capacity  of  cilia  by  measurement  of  mucociliary  transport.The  clinical  consequences  of  the  immotile  cilia  syndrome  include  chronic  cough  and  expectoration,  bronchiectasis,  chronic  rhinitis  and  nasal  polyposis,  chronic  or  recurrent  sinusitis,  and  often  an  agenesis  of  the  frontal  sinuses.  Otosalpingitis  and  otitis  are  common.  Obstructive  lung  disease  may  develop  and  is  expressed  as  chronic  airflow  limitation.  Most  clinical  manifestations  date  from  early  childhood.  Neonatal  asphyxia  occurs  often.Males  are  usually  sterile.  Females  may  be  fertile  or  infertile.Treatment  is  symptomatic  and  directed  against  complications  in  the  upper  and  lower  respiratory  tract.  Physiotherapy  often  should  be  started  early  in  life.  With  modern  care  and  abstinence  from  smoking,  the  prognosis  in  the  immotile  cilia  syndrome  is  good.The  immotile  cilia  syndrome  clearly  is  a  genetically  heterogeneous  disease,  although  its  clinical  profile  is  fairly  uniform.  Many  genes  participate  in  the  construction  of  a  cilium,  and  an  error  in  any  one  of  them  will  prevent  the  cilia  from  working  properly.  The  inheritance  in  most  cases  is  autosomal  recessive.  In  families  in  which  the  immotile  cilia  syndrome  occurs,  on  average,  half  the  affected  siblings  have  situs  inversus.  Presumably,  chance  alone  decides  between  situs  inversus  and  situs  solitus  in  homozygotes  of  the  syndrome.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
M3  - doi: 10.1036/ommbid.220
Y2  - 2024/04/18
UR  - ommbid.mhmedical.com/content.aspx?aid=1181458310
ER  -