TY  - CHAP
M1  - Book, Section
TI  - Wilson Disease
A1  - Roberts, Eve A.
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:Wilson  disease  (WD)  is  a  disorder  of  hepatic  copper  disposition  caused  by  mutations  in  the  gene  ATP7B,  on  chromosome  13,  which  encodes  a  metal-transporting  P1-type  ATPase,  known  as  the  Wilson  ATPase.  In  hepatocytes  the  Wilson  ATPase  assists  in  moving  copper  across  intracellular  membranes,  which  directly  contributes  to  production  of  ceruloplasmin,  a  ferroxidase  that  is  functional  only  when  copper  is  incorporated.  Additionally,  the  Wilson  ATPase  expedites  excretion  of  copper  into  bile.  Accordingly,  in  WD  serum  concentrations  of  ceruloplasmin  are  low  and  hepatic  retention  of  copper  develops,  leading  to  liver  injury.  With  progression  of  liver  disease,  copper  spills  out  of  the  liver  and  accumulates  in  other  organs,  such  as  the  brain,  eyes,  renal  tubules,  heart,  and  synovial  membranes.  Untreated  WD  is  a  progressive  degenerative  disease,  nearly  always  associated  with  early  death.WD  occurs  worldwide,  but  it  is  rare.  The  average  prevalence  is  30  affected  persons  per  million  population,  with  a  corresponding  carrier  frequency  of  approximately  1  in  90.  More  than  500  mutations  have  been  identified,  and  80%  of  affected  individuals  are  compound  heterozygotes.  In  some  populations  (including  Iceland,  Korea,  Japan,  Sardinia,  and  the  Canary  Islands)  where  the  incidence  in  higher,  there  may  also  be  a  relatively  circumscribed  set  of  mutations.  In  northeastern  Europe,  the  mutation  H1069Q  is  found  as  at  least  one  of  the  mutations  in  35%  to  75%  of  WD  patients.Hereditary  basis:Autosomal  recessiveDifferential  diagnosis  (limited  to  principal  disorders):HepaticCauses  of  elevated  serum  aminotransferases:  chronic  hepatitis  B,  chronic  hepatitis  C,  nonalcoholic  fatty  liver  disease  (NAFLD),  alcoholic  hepatitis,  alpha-1-antitrypsin  deficiency,  any  drug-induced  liver  injuryFatty  liver:  NAFLD,  alcoholic  liver  disease,  various  rare  metabolic  disordersAcute  hepatitis:  acute  hepatitis  A,  B,  C,  E;  cytomegalovirus  (CMV),  Epstein-Barr  virus  (EBV),  human  herpes  virus  6  (HHV-6);  unknown  virus(es)Autoimmune  hepatitis-like:  autoimmune  hepatitis  type  1  or  2,  primary  sclerosing  cholangitis  (with  an  autoimmune  sclerosing  cholangitis  pattern)Cirrhosis:  principal  causes  of  cirrhosis  are  covered  already;  other  rare  metabolic  disorders  (eg,  citrullinemia  type  2—mainly  in  East  Asians)Gallstones:  cholesterol  gallstones,  typically  idiopathicFulminant  hepatic  failure  presentation:  highly  characteristic  of  WD  but  causes  of  acute  liver  failure  require  attentionNeurologicParkinson  diseaseChoreoathetosis—other  causesPseudobulbar  palsy—other  causesTremors—other  causesDysarthria—other  causesFamilial  dysautonomiaEpilepsy—other  causesPsychiatricOrganic  brain  syndromesPrimary  causes  of  neuroses  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/19
UR  - accessbiomedicalscience.mhmedical.com/content.aspx?aid=1102702230
ER  -