All individuals with variants in gene ABCB4

21 entries on 1 page. Showing entries 1 - 21.
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00054818 - PubMed: de Vree 1998 2-generation family, affected boy, unaffected heterozygous carrier parents M yes Turkey - >06y - - orthotopic liver transplantation PFIC3 3m-recurrent bouts of jaundice, presented with severe icterus, diarrhea, fever, pruritus; 3y-hepatosplenomegaly, elevated serum liver enzymes, increased γ-GT activity (6x), high serum bile acid concentration (50 x)., prothrombin time 0.50 (normal >0.70); liver biopsy revealed nonspecific portal inflammation, extensive portal fibrosis, cirrhosis, no response to UDCA treatment; 3.5y orthotopic liver transplantation for complications liver cirrhosis, extrahepatic bile ducts patent at time liver transplantation; 6y good clinical condition 1 1 Johan den Dunnen
00054819 - PubMed: de Vree 1998 2-generation family, 1 affected, unaffected heterozygous carrier first-cousin parents M yes France African, north >09y - - liver transplantation PFIC3 8m recurrent episodes severe pruritus; 3y hepatosplenomegaly, strongly increased serum γ-GT activity (38x), increased serum bile acids (16x), serum aspartate and alanine aminotransferase activities mildly elevated, prothrombin time 0.10 (normalized after vitamin K1 injection); liver histology ductular proliferation, extensive portal fibrosis; cholangiography normal intra-/extrahepatic bile ducts; 4y-UDCA treatment ineffective, liver enzymes and liver histology further deteriorated toward end-stage liver disease with ascites and severe jaundice; 9y-liver transplantation, now good clinical condition 1 1 Johan den Dunnen
00054853 - PubMed: Jacquemin 1999, Journal: Jacquemin 1999 4-generation family, 1 affected, 2 unaffected heterozygous carrier males, 4 heterozygous carrier females F yes France - >06y - - liver transplantation PFIC3 PFIC; 6y received liver graft 1 5 Johan den Dunnen
00054854 - PubMed: Jacquemin 1999, Journal: Jacquemin 1999 4 heterozygous carrier females F no France - - - - - ICP3 at least one typical episode of intrahepatic cholestasis of pregnancy (pruritus, abnormal serum liver tests with cholestatic pattern third trimester) resulting in fetal deaths in 3 women and spontaneous and progressive disappearance of cholestasis after delivery 1 4 Johan den Dunnen
00054855 - PubMed: Dixon 2000, Journal: Dixon 2000 affected female F no United Kingdom (Great Britain) - - - - - ICP3 2 live births, 2 lost pregnancies; pruritus started 15w, fetal distress (meconium staining amniotic fluid or fetal heart rate abnormality); delivery 35w6d; max. levels ALT 163 U/l (<28), yGT 50 (<30), U/l BA 237 mM (<6) 1 1 Johan den Dunnen
00155227 29311637-Fam1 PubMed: Saeed 2018 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Pakistan Punjab - - - - obesity severe, early-onset obesity (BMI score ≥3) 1 1 Johan den Dunnen
00180939 - - - F - - - - - - - - HP:0001081 (Cholelithiasis) 1 1 Gunnar Schmidt
00181082 Pat1 PubMed: Huynh 2019 - F no - - - - - endoscopic biliary sphincterotomy, ursodeoxycholic acid treatment ICP3 ICP, endoscopic sphincterotomy, disturbance of liver function, intense pruritus, itching, ursodeoxycholic acid treatment 1 1 Minh Tuan Huynh
00181083 Pat2 PubMed: Huynh 2019 - F no - - - - - biliary sphincterotomy, cholecystectomy, ursodeoxycholic acid treatment ICP3 ICP of 24 weeks of gestation, intense pruritus at night (trunk and lower limbs), elevated AST, ALT), bile acids of 50µmol/L. Mother had history of intrahepatic cholestasis of pregnancy. Intrahepatic microlithiasis on imaging, ursodeoxycholic acid treatment 1 1 Minh Tuan Huynh
00181085 Pat4 PubMed: Huynh 2019 - F no - - - - - Ursodeoxycholic acid treatment GBD1;LPAC Multiple episodes of epigastric pain after meals, vomiting, nausea. Ultrasound: multiple intrahepatic microlithiasis, cholecystectomy, ursodeoxycholic acid treatment. 1 1 Minh Tuan Huynh
00181086 Pat5 PubMed: Huynh 2019 - F - - - - - - ursodeoxycholic acid treatment GBD1;LPAC symptomatic gallstone disease, cholecystectomy at the age of 24, epigastric pain radiating to the right hypochondrium, increased after meals. Increased level of transaminases and GGT. Ultrasound: comet-tails, moderate dilatation of intrahepatic bile ducts, ursodeoxycholic acid treatment 1 1 Minh Tuan Huynh
00183337 - - - F - - - - - - - - HP:0012115 (Hepatitis) 1 1 Gunnar Schmidt
00226258 - - - M - Turkey - - - - - GBD1;LPAC - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00228272 - - - ? - - - - - - - ? Hepatic failure (HP:0001399); Cirrhosis (HP:0001394) 1 1 IMGAG
00294507 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 61 Mohammed Faruq
00305170 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00307437 Fam10PatLP85 PubMed: Stalke 2018 - - - Germany - - - - - PFIC liver cirrhosis 2 1 Johan den Dunnen
00307438 Fam11PatLP130 PubMed: Stalke 2018 - - - Germany - - - - - PFIC characteristic phenotype (cholestatic liver disease) 2 1 Johan den Dunnen
00416010 Pat3 PubMed: Huynh 2019 - - - - - - - - - GBD1;LPAC - 2 1 Johan den Dunnen
00427968 A002 PubMed: Bournazos 2022 family, 1 affected - - Australia - - - - - ? - 2 1 Johan den Dunnen
00453355 patient PubMed: Shi 2024 - - - China - - - - - ? see paper; ..., 13y-Becker muscular dystrophy; 16y-heart failure, atrial fibrillation; mild breath shortness/chest distress on exertion; treatment for cardiac dysfunction 1 1 Johan den Dunnen
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