| H00624 | |
| H番号 | H00624 |
| 名称 | 進行性家族性肝内胆汁うっ滞症 |
| 概要 | Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of rare, genetic autosomal recessive disorders characterized by unremitting cholestasis and progression to liver failure. The course of the disease involves portal hypertension, liver failure, cirrhosis, hepatocellular carcinoma along with several extra hepatic manifestations. The pathogenesis of PFIC revolves around defective bile acid synthesis, transport, and/or excretion. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | (PFIC1) ATP8B1 [HSA:5205] [KO:K01530] (PFIC2) ABCB11 [HSA:8647] [KO:K05664] (PFIC3) ABCB4 [HSA:5244] [KO:K05659] (PFIC4) TJP2 [HSA:9414] [KO:K06098] (PFIC5) NR1H4 [HSA:9971] [KO:K08537] (PFIC6) SLC51A [HSA:200931] [KO:K14360] (PFIC7) USP53 [HSA:54532] (PFIC8) KIF12 [HSA:113220] [KO:K10399] (PFIC9) ZFYVE19 [HSA:84936] [KO:K24778] (PFIC10) MYO5B [HSA:4645] [KO:K10357] (PFIC11) SEMA7A [HSA:8482] [KO:K06529] (PFIC12) VPS33B [HSA:26276] [KO:K23281] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C58.03 5C52.11 ICD-10: K83.1 MeSH: D002780 OMIM: 211600 601847 602347 615878 617049 619484 619658 619662 619849 619868 619874 620010 |
| 文献 | PMID:28195083 著者 Gaur K, Sakhuja P タイトル Progressive familial intrahepatic cholestasis: A comprehensive review of a challenging liver disease. 雑誌 Indian J Pathol Microbiol 60:2-7 (2017) DOI:10.4103/0377-4929.200040 PMID:27785268 著者 Amer S, Hajira A タイトル A Comprehensive Review of Progressive Familial Intrahepatic Cholestasis (PFIC): Genetic Disorders of Hepatocanalicular Transporters. 雑誌 Gastroenterology Res 7:39-43 (2014) DOI:10.14740/gr609e PMID:9500542 (PFIC1) 著者 Bull LN, van Eijk MJ, Pawlikowska L, DeYoung JA, Juijn JA, Liao M, Klomp LW, Lomri N, Berger R, Scharschmidt BF, Knisely AS, Houwen RH, Freimer NB タイトル A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. 雑誌 Nat Genet 18:219-24 (1998) DOI:10.1038/ng0398-219 PMID:9806540 (PFIC2) 著者 Strautnieks SS, Bull LN, Knisely AS, Kocoshis SA, Dahl N, Arnell H, Sokal E, Dahan K, Childs S, Ling V, Tanner MS, Kagalwalla AF, Nemeth A, Pawlowska J, Baker A, Mieli-Vergani G, Freimer NB, Gardiner RM, Thompson RJ タイトル A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. 雑誌 Nat Genet 20:233-8 (1998) DOI:10.1038/3034 PMID:9419367 (PFIC3) 著者 de Vree JM, Jacquemin E, Sturm E, Cresteil D, Bosma PJ, Aten J, Deleuze JF, Desrochers M, Burdelski M, Bernard O, Oude Elferink RP, Hadchouel M タイトル Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. 雑誌 Proc Natl Acad Sci U S A 95:282-7 (1998) DOI:10.1073/pnas.95.1.282 PMID:24614073 (PFIC4) 著者 Sambrotta M, Strautnieks S, Papouli E, Rushton P, Clark BE, Parry DA, Logan CV, Newbury LJ, Kamath BM, Ling S, Grammatikopoulos T, Wagner BE, Magee JC, Sokol RJ, Mieli-Vergani G, Smith JD, Johnson CA, McClean P, Simpson MA, Knisely AS, Bull LN, Thompson RJ タイトル Mutations in TJP2 cause progressive cholestatic liver disease. 雑誌 Nat Genet 46:326-8 (2014) DOI:10.1038/ng.2918 PMID:26888176 (PFIC5) 著者 Gomez-Ospina N, Potter CJ, Xiao R, Manickam K, Kim MS, Kim KH, Shneider BL, Picarsic JL, Jacobson TA, Zhang J, He W, Liu P, Knisely AS, Finegold MJ, Muzny DM, Boerwinkle E, Lupski JR, Plon SE, Gibbs RA, Eng CM, Yang Y, Washington GC, Porteus MH, Berquist WE, Kambham N, Singh RJ, Xia F, Enns GM, Moore DD タイトル Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. 雑誌 Nat Commun 7:10713 (2016) DOI:10.1038/ncomms10713 PMID:31863603 (PFIC6) 著者 Gao E, Cheema H, Waheed N, Mushtaq I, Erden N, Nelson-Williams C, Jain D, Soroka CJ, Boyer JL, Khalil Y, Clayton PT, Mistry PK, Lifton RP, Vilarinho S タイトル Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea. 雑誌 Hepatology 71:1879-1882 (2020) DOI:10.1002/hep.31087 PMID:32124521 (PFIC7) 著者 Zhang J, Yang Y, Gong JY, Li LT, Li JQ, Zhang MH, Lu Y, Xie XB, Hong YR, Yu Z, Knisely AS, Wang JS タイトル Low-GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization. 雑誌 Liver Int 40:1142-1150 (2020) DOI:10.1111/liv.14422 PMID:34555379 (PFIC8) 著者 Stalke A, Sgodda M, Cantz T, Skawran B, Lainka E, Hartleben B, Baumann U, Pfister ED タイトル KIF12 Variants and Disturbed Hepatocyte Polarity in Children with a Phenotypic Spectrum of Cholestatic Liver Disease. 雑誌 J Pediatr 240:284-291.e9 (2022) DOI:10.1016/j.jpeds.2021.09.019 PMID:32737136 (PFIC9) 著者 Luan W, Hao CZ, Li JQ, Wei Q, Gong JY, Qiu YL, Lu Y, Shen CH, Xia Q, Xie XB, Zhang MH, Abuduxikuer K, Li ZD, Wang L, Xing QH, Knisely AS, Wang JS タイトル Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis. 雑誌 J Med Genet 58:514-525 (2021) DOI:10.1136/jmedgenet-2019-106706 PMID:27532546 (PFIC10) 著者 Gonzales E, Taylor SA, Davit-Spraul A, Thebaut A, Thomassin N, Guettier C, Whitington PF, Jacquemin E タイトル MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusion disease. 雑誌 Hepatology 65:164-173 (2017) DOI:10.1002/hep.28779 PMID:34585848 (PFIC11) 著者 Pan Q, Luo G, Qu J, Chen S, Zhang X, Zhao N, Ding J, Yang H, Li M, Li L, Cheng Y, Li X, Xie Q, Li Q, Zhou X, Zou H, Fan S, Zou L, Liu W, Deng G, Cai SY, Boyer JL, Chai J タイトル A homozygous R148W mutation in Semaphorin 7A causes progressive familial intrahepatic cholestasis. 雑誌 EMBO Mol Med 13:e14563 (2021) DOI:10.15252/emmm.202114563 PMID:31479177 (PFIC12) 著者 Qiu YL, Liu T, Abuduxikuer K, Hao CZ, Gong JY, Zhang MH, Li LT, Yan YY, Li JQ, Wang JS タイトル Novel missense mutation in VPS33B is associated with isolated low gamma-glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome. 雑誌 Hum Mutat 40:2247-2257 (2019) DOI:10.1002/humu.23770 |