ABCMdb

PMID: 14501614

Efrati O, Barak A, Modan-Moses D, Augarten A, Vilozni D, Katznelson D, Szeinberg A, Yahav J, Bujanover Y
Liver cirrhosis and portal hypertension in cystic fibrosis.
Eur J Gastroenterol Hepatol. 2003 Oct;15(10):1073-8., [PubMed]

Sentences

No. Mutations Sentence Comment

55 ABCC7 p.Trp1282* All patients had severe CFTR genetic mutations (W1282X). Login to comment 90 ABCC7 p.Trp1282* Moreover, five of our 10 patients carry the W1282X mutation (stop mutation). Login to comment 92 ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly542* Unauthorized reproduction of this article is prohibited. Table 2 Details of the 10 cystic fibrosis patients with portal hypertension Pulmonary function test Symptoms Liver Patient of portal synthetic Procedures number Sex Mutation FEV1 FVC hypertension function (year) 1 M W1282X/W1282X 50% 55% H,V Abnormal Splenectomy & splenorenal shunt (`63) 2 F A¨ F508/G542X 75% 90% H,V Abnormal Portacaval end to side shunt (`77) 3 M G542X/W1282X 82% 92% H,V Abnormal Liver transplantation (`90) 4 M A¨ F508/W1282X 65% 80% H,V,A Abnormal Sclerotherapy & portacaval shunt (`98) 5 M G542X/W1282X 30% 40% H,V,A Abnormal Sclerotherapy & TIPSS (x2): right hepatic to left portal shunt (`99) 6 M A¨ F508/G542X 70% 80% H,V Abnormal Sclerotherapy & portosystemic shunt: superior mesenteric vein to left renal vein (`99) 7 M A¨ F508/A¨ F508 22% 25% H,V,A Abnormal Recurrent sclerotherapy (x5) & TIPSS 8 F W1282X/N1303K 75% 85% H,V,A Abnormal Sclerotherapy 9 M G542X/G542X 65% 70% H,V,A Abnormal Sclerotherapy 10 M A¨ F508/A¨ F508 55% 85% H,V Borderline Sclerotherapy M, male; F, female; FEV1, forced expiratory volume in 1s; FVC, forced vital capacity; H, hypersplenism; V, varices; A, ascites; TIPSS, transjugular intrahepatic portosystemic shunt. Login to comment