| H00933 | |
| H番号 | 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 |
| ネットワーク | - |
| 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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: DC32.2 ICD-10: K86.1 MeSH: D010195 OMIM: 167800 |
| 文献 | PMID:21907651 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 PMID:17204147 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 PMID:17238030 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 PMID:15800694 著者 Grigorescu M, Grigorescu MD タイトル Genetic factors in pancreatitis. 雑誌 Rom J Gastroenterol 14:53-61 (2005) 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 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 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 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 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 |