KEGG   DISEASE: 全身性強皮症
エントリ  
H01492                                                             
名称    
全身性強皮症
概要    
Systemic sclerosis (scleroderma) is an autoimmune disease that is characterized by fibrosis of the skin and major internal organs. The core symptoms of this disease are Raynaud's phenomenon, skin thickening, Nail-fold capillary, and serum autoantibody production. Systemic sclerosis can manifest as either the diffuse or the limited variant, distinguished by the degree and the extent of cutaneous sclerosis. A highly variable clinical course exists that spans from mild and subtle findings to aggressive life-threatening multisystem disease. Anti-nuclear antibodies (ANA) are present in more than 90% of patients, and these ANA react against various intracellular components. However, one patient rarely has two or more types of ANA. The particular ANA types are often indicative of clinical features, disease course and overall severity. At present, there is no treatment that has been proven to modify the overall disease course, but therapy that targets specific organ involvement early before irreversible damage occurs does improve both quality of life and survival. Although the precise pathogenesis of this disease remains unknown, the consensus is that it is triggered in genetically-susceptible individuals by exposure to specific environmental agents.
カテゴリ  
免疫系疾患; 皮膚疾患
階層分類  
ヒト疾患 [BR:jp08402]
 免疫系疾患
  アレルギーと自己免疫疾患
   H01492  全身性強皮症
 皮膚疾患
  皮膚と軟部組織の疾患
   H01492  全身性強皮症
ICD-11 による疾患分類 [BR:jp08403]
 04 免疫系の疾患
  非器官特異的全身性自己免疫疾患
   4A42  全身性硬化症
    H01492  全身性強皮症
特定疾患 (難病) [jp08407.html]
 H01492
関連パスウェイ
hsa04640 Hematopoietic cell lineage   
hsa04658 Th1 and Th2 cell differentiation   
hsa04659 Th17 cell differentiation   
病因遺伝子 
HLA-DRB1 (polymorphism) [HSA:3123] [KO:K06752]
HLA-DPA1 (polymorphism) [HSA:3113] [KO:K06752]
HLA-DPB1 (polymorphism) [HSA:3115] [KO:K06752]
HLA-DQA1 (polymorphism) [HSA:3117] [KO:K06752]
HLA-DQB1 (polymorphism) [HSA:3119] [KO:K06752]
STAT4 (polymorphism) [HSA:6775] [KO:K11222]
IRF5 (polymorphism) [HSA:3663] [KO:K09446]
CD247 (polymorphism) [HSA:919] [KO:K06453]
PTPN22 (polymorphism) [HSA:26191] [KO:K18024]
BANK1 (polymorphism) [HSA:55024]
TNFAIP3 (polymorphism) [HSA:7128] [KO:K11859]
TNIP1 (polymorphism) [HSA:10318] [KO:K23829]
TNFSF4 (polymorphism) [HSA:7292] [KO:K05469]
IL-1A (polymorphism) [HSA:3552] [KO:K04383]
IL-1B (polymorphism) [HSA:3553] [KO:K04519]
IL-1R1 (polymorphism) [HSA:3554] [KO:K04386]
CCR6 (polymorphism) [HSA:1235] [KO:K04181]
治療薬   
デキサメタゾン [DR:D00292]
デキサメタゾンリン酸エステルナトリウム [DR:D00975]
ベタメタゾンリン酸エステルナトリウム [DR:D00972]
トリアムシノロンアセトニド [DR:D00983]
ボセンタン水和物 [DR:D01227]
ヒドロコルチゾン [DR:D00088]
トリアムシノロン [DR:D00385]
ベタメタゾン [DR:D00244]
プレドニゾロン [DR:D00472]
プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
メチルプレドニゾロン [DR:D00407]
メチルプレドニゾロンコハク酸エステルナトリウム [DR:D00751]
メチルプレドニゾロン酢酸エステル [DR:D00979]
アザチオプリン [DR:D00238]
シクロホスファミド水和物 [DR:D00287]
リツキシマブ [DR:D02994]
コメント  
CREST syndrome is the limited cutaneous form of systemic sclerosis.
リンク   
ICD-11: 4A42
ICD-10: M34
MeSH: D012595
OMIM: 181750
文献    
  著者
Shah AA, Wigley FM
  タイトル
My approach to the treatment of scleroderma.
  雑誌
Mayo Clin Proc 88:377-93 (2013)
DOI:10.1016/j.mayocp.2013.01.018
文献    
PMID:20175839 (marker)
  著者
Hamaguchi Y
  タイトル
Autoantibody profiles in systemic sclerosis: predictive value for clinical evaluation and prognosis.
  雑誌
J Dermatol 37:42-53 (2010)
DOI:10.1111/j.1346-8138.2009.00762.x
文献    
  著者
Korman BD, Criswell LA
  タイトル
Recent advances in the genetics of systemic sclerosis: toward biological and clinical significance.
  雑誌
Curr Rheumatol Rep 17:21 (2015)
DOI:10.1007/s11926-014-0484-x
文献    
  著者
Murdaca G, Contatore M, Gulli R, Mandich P, Puppo F
  タイトル
Genetic factors and systemic sclerosis.
  雑誌
Autoimmun Rev 15:427-32 (2016)
DOI:10.1016/j.autrev.2016.01.016
文献    
PMID:19758208 (env_factor)
  著者
Arnson Y, Amital H, Guiducci S, Matucci-Cerinic M, Valentini G, Barzilai O, Maya R, Shoenfeld Y
  タイトル
The role of infections in the immunopathogensis of systemic sclerosis--evidence from serological studies.
  雑誌
Ann N Y Acad Sci 1173:627-32 (2009)
DOI:10.1111/j.1749-6632.2009.04808.x
文献    
PMID:21691743 (drug)
  著者
Poormoghim H, Moradi Lakeh M, Mohammadipour M, Sodagari F, Toofaninjed N
  タイトル
Cyclophosphamide for scleroderma lung disease: a systematic review and meta-analysis.
  雑誌
Rheumatol Int 32:2431-44 (2012)
DOI:10.1007/s00296-011-1967-y
文献    
PMID:25475597 (drug)
  著者
Carlson DA, Hinchcliff M, Pandolfino JE
  タイトル
Advances in the evaluation and management of esophageal disease of systemic sclerosis.
  雑誌
Curr Rheumatol Rep 17:475 (2015)
DOI:10.1007/s11926-014-0475-y
文献    
PMID:24387049 (drug)
  著者
Murdaca G, Spano F, Puppo F
  タイトル
Current therapies for the treatment of systemic sclerosis-related pulmonary arterial hypertension: efficacy and safety.
  雑誌
Expert Opin Drug Saf 13:295-305 (2014)
DOI:10.1517/14740338.2014.872238
文献    
PMID:21061100 (drug)
  著者
Bussone G, Berezne A, Pestre V, Guillevin L, Mouthon L
  タイトル
The scleroderma kidney: progress in risk factors, therapy, and prevention.
  雑誌
Curr Rheumatol Rep 13:37-43 (2011)
DOI:10.1007/s11926-010-0145-7
文献    
PMID:21184655 (drug)
  著者
Shetty N, Derk CT
  タイトル
Endothelin receptor antagonists as disease modifiers in systemic sclerosis.
  雑誌
Inflamm Allergy Drug Targets 10:19-26 (2011)
DOI:10.2174/187152811794352088
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