KEGG   DISEASE: 遺伝性膵炎
エントリ  
H00933                                                             
名称    
遺伝性膵炎
概要    
Hereditary pancreatitis is a very rare form of chronic relapsing pancreatitis. Its inheritance mode is autosomal dominant with an incomplete penetrance (80%). Patients had recurrent pancreatitis with impairment of endocrine and exocrine pancreatic function, maldigestion, bile duct and duodenal obstruction, and rarely pancreatic cancer. The age of onset is early and differs from the cases of non-hereditary pancreatitis.
カテゴリ  
消化器系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 13 消化器系の疾患
  膵疾患
   DC32  慢性膵炎
    H00933  遺伝性膵炎
指定難病 [jp08407.html]
 H00933
パスウェイ 
hsa04972  Pancreatic secretion
hsa04974  Protein digestion and absorption
病因遺伝子 
PRSS1 [HSA:5644] [KO:K01312]
SPINK1 [HSA:6690] [KO:K23417]
CFTR [HSA:1080] [KO:K05031]
PRSS2 [HSA:5645] [KO:K01312]
CTRC [HSA:11330] [KO:K01311]
リンク   
ICD-11: DC32.2
ICD-10: K86.1
MeSH: D010195
OMIM: 167800
文献    
  著者
Rebours V, Levy P, Ruszniewski P
  タイトル
An overview of hereditary pancreatitis.
  雑誌
Dig Liver Dis 44:8-15 (2012)
DOI:10.1016/j.dld.2011.08.003
文献    
  著者
Rosendahl J, Bodeker H, Mossner J, Teich N
  タイトル
Hereditary chronic pancreatitis.
  雑誌
Orphanet J Rare Dis 2:1 (2007)
DOI:10.1186/1750-1172-2-1
文献    
  著者
Naruse S, Fujiki K, Ishiguro H
  タイトル
Is genetic analysis helpful for diagnosing chronic pancreatitis in its early stage?
  雑誌
J Gastroenterol 42 Suppl 17:60-5 (2007)
DOI:10.1007/s00535-006-1934-7
文献    
  著者
Grigorescu M, Grigorescu MD
  タイトル
Genetic factors in pancreatitis.
  雑誌
Rom J Gastroenterol 14:53-61 (2005)
文献    
PMID:8841182 (PRSS1)
  著者
Whitcomb DC, Gorry MC, Preston RA, Furey W, Sossenheimer MJ, Ulrich CD, Martin SP, Gates LK Jr, Amann ST, Toskes PP, Liddle R, McGrath K, Uomo G, Post JC, Ehrlich GD
  タイトル
Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene.
  雑誌
Nat Genet 14:141-5 (1996)
DOI:10.1038/ng1096-141
文献    
PMID:10835640 (SPINK1)
  著者
Witt H, Luck W, Hennies HC, Classen M, Kage A, Lass U, Landt O, Becker M
  タイトル
Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.
  雑誌
Nat Genet 25:213-6 (2000)
DOI:10.1038/76088
文献    
PMID:9725921 (CFTR)
  著者
Sharer N, Schwarz M, Malone G, Howarth A, Painter J, Super M, Braganza J
  タイトル
Mutations of the cystic fibrosis gene in patients with chronic pancreatitis.
  雑誌
N Engl J Med 339:645-52 (1998)
DOI:10.1056/NEJM199809033391001
文献    
PMID:16699518 (PRSS2)
  著者
Witt H, Sahin-Toth M, Landt O, Chen JM, Kahne T, Drenth JP, Kukor Z, Szepessy E, Halangk W, Dahm S, Rohde K, Schulz HU, Le Marechal C, Akar N, Ammann RW, Truninger K, Bargetzi M, Bhatia E, Castellani C, Cavestro GM, Cerny M, Destro-Bisol G, Spedini G, Eiberg H, Jansen JB, Koudova M, Rausova E, Macek M Jr, Malats N, Real FX, Menzel HJ, Moral P, Galavotti R, Pignatti PF, Rickards O, Spicak J, Zarnescu NO, Bock W, Gress TM, Friess H, Ockenga J, Schmidt H, Pfutzer R, Lohr M, Simon P, Weiss FU, Lerch MM, Teich N, Keim V, Berg T, Wiedenmann B, Luck W, Groneberg DA, Becker M, Keil T, Kage A, Bernardova J, Braun M, Guldner C, Halangk J, Rosendahl J, Witt U, Treiber M, Nickel R, Ferec C
  タイトル
A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis.
  雑誌
Nat Genet 38:668-73 (2006)
DOI:10.1038/ng1797
文献    
PMID:18172691 (CTRC)
  著者
Masson E, Chen JM, Scotet V, Le Marechal C, Ferec C
  タイトル
Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis.
  雑誌
Hum Genet 123:83-91 (2008)
DOI:10.1007/s00439-007-0459-3
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