Clinical and ABCB11 profiles in Korean infants with progressive familial intrahepatic cholestasis
| Autor: | Jae Sung Ko, Ji Sook Park, Sung Sup Park, Jeong Kee Seo, Jin Soo Moon |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
Male
medicine.medical_treatment Biopsy DNA Mutational Analysis Gallstones Liver transplantation Gastroenterology 0302 clinical medicine Living Donors ABCB11 ATP Binding Cassette Transporter Subfamily B Member 11 Ultrasonography medicine.diagnostic_test Progressive familial intrahepatic cholestasis General Medicine Prognosis Phenotype 030220 oncology & carcinogenesis Hepatocellular carcinoma Disease Progression 030211 gastroenterology & hepatology Female medicine.medical_specialty Heterozygote Carcinoma Hepatocellular Mutation Missense Cholestasis Intrahepatic 03 medical and health sciences Asian People Retrospective Study Internal medicine Republic of Korea medicine Humans Genetic Predisposition to Disease Genetic Association Studies Retrospective Studies business.industry Infant Newborn Infant Heterozygote advantage medicine.disease Bile Salt Export Pump Liver Transplantation Microscopy Electron ATP-Binding Cassette Transporters business Tomography X-Ray Computed |
| Zdroj: | World journal of gastroenterology. 22(20) |
| ISSN: | 2219-2840 |
| Popis: | To investigate clinical profiles and mutations of ABCB11 in Koreans with progressive familial intrahepatic cholestasis 2 and review the differences between Koreans and others.Of 47 patients with neonatal cholestasis, five infants had chronic intrahepatic cholestasis with normal γ-glutamyl transpeptidase. Direct sequencing analyses of ABCB11, including exons and introns, were performed from peripheral blood.Living donor-liver transplantation was performed in four patients because of rapidly progressive hepatic failure and hepatocellular carcinoma. Three missense mutations were found in two patients: compound heterozygous 677CT (S226L)/3007GA (G1003R) and heterozygous 2296GA (G766R). The mutations were located near and in the transmembranous space.Alterations in the transmembrane of the bile salt export pump in the Korean infants were different from those previously reported in Chinese, Japanease, Taiwanese, and European patients. |
| Databáze: | OpenAIRE |
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