TY  - CHAP
M1  - Book, Section
TI  - Pre-eclampsia
A1  - Wilkins-Haug, Louise
A2  - Murray, Michael F.
A2  - Babyatsky, Mark W.
A2  - Giovanni, Monica A.
A2  - Alkuraya, Fowzan S.
A2  - Stewart, Douglas R.
PY  - 2014
T2  - Clinical Genomics: Practical Applications in Adult Patient Care
AB  - Disease  summary:Pre-eclampsia  is  a  multisystem  disorder  unique  to  pregnancy  and  occurs  in  4%  to  7%  of  women.This  condition  is  clinically  characterized  by  elevated  blood  pressure  and  proteinuria.The  manifestations  of  pre-eclampsia  are  thought  to  occur  following  an  interrelated  cascade  of  abnormal  placental  implantation,  hypoxia,  release  of  antiangiogenic  factors,  placental/fetal/maternal  immunologic  dysfunction,  and  dysfunction/destruction  of  maternal  vascular  endothelial  cells.The  constellation  of  hemolysis,  elevated  liver  enzymes,  and  low  platelets  (HELLP  syndrome)  represents  a  variant  of  pre-eclampsia  that  may  present  without  significant  proteinuria.Eclampsia  is  the  progression  to  grand  mal  seizures  in  a  woman  with  pre-eclampsia.Differential  diagnosis:Chronic  hypertension,  gestational  hypertensionMonogenic  forms:None  identified.Family  history:A  mother  with  pre-eclampsia  confers  a  20%  to  40%  risk  to  her  daughter  for  pre-eclampsia;  sisters  of  pre-eclamptic  woman  face  an  11%  to  37%  risk  of  pre-eclampsia.  Risks  for  eclampsia  appear  to  be  similar  if  not  slightly  higher.Twin  studies:60%  concordance  in  monozygotic  twins.Environmental  factors:Dietary  deficiencies  of  calcium  and  antioxidant  vitamins  C  and  E  have  been  suspected  to  play  a  role  in  pre-eclampsia  on  an  epidemiologic  basis.  However,  numerous  trials  of  repletion  have  not  shown  a  benefit.Genome-wide  associations:Genome-wide  association  studies  (GWAS)  in  Iceland,  Australia,  New  Zealand,  and  Finland  have  indicated  a  possible  susceptibility  locus  on  chromosome  2  although  complete  agreement  does  not  exist  as  to  the  specific  location.  Further  refinement  with  transcription-targeted  candidate  genes  initially  derived  from  androgenic  (fetus-free)  placentas  and  applied  to  whole  genome  screening  successfully  further  refined  a  pre-eclampsia-linked  site  to  2q22.  Upregulated  in  decidua  from  pre-eclamptic  women,  a  candidate  gene  within  this  region,  activin  (ACVR2)  was  given  the  highest  priority  as  a  possible  gene  for  pre-eclampsia.  However,  other  loci  have  been  reported  from  GWAS  of  populations  including  10q21.3,  2p25.1,  9p21,  2p11.2,  and  4q34  reflecting  the  multifactorial  nature  of  pre-eclampsia  and  limitations  of  GWAS  applications.Pharmacogenomics:None  applicable.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/16
UR  - accessmedicine.mhmedical.com/content.aspx?aid=1102703832
ER  -