Neonatal cholestatic jaundice as the first symptom of a mutation in the hepatocyte nuclear factor-1beta gene (HNF-1beta).
作者： Dominique Beckers , Christine Bellanné-Chantelot , Marc Maes
DOI: 10.1016/J.JPEDS.2006.12.006
关键词: Hepatocyte Nuclear Factor 1-Beta 、 Maturity onset diabetes of the young 、 Phenotype 、 Hepatocyte 、 Gastroenterology 、 Endocrinology 、 Frameshift mutation 、 Mutation 、 Jaundice 、 Internal medicine 、 Intrahepatic bile ducts 、 Medicine
摘要: This report describes the phenotype of a novel de novo heterozygous frameshift mutation in hepatocyte nuclear factor-1beta gene (HNF-1beta or TCF2) manifest as neonatal paucity intrahepatic bile ducts. HNF-1beta mutations should be considered neonates with cholestatic jaundice associated renal malformation diabetes mellitus.
elsevier.com
sci-hub.se 参考文章(10)
Moshe Yaniv, Lionel Gresh, Günther Schütz, Jacqueline Barra, François Tronche, Charles Babinet, Laurence Fiette, Marco Pontoglio, Catherine Coffinier, Bile system morphogenesis defects and liver dysfunction upon targeted deletion of HNF1β Development. ,vol. 129, pp. 1829- 1838 ,(2002) , 10.1242/DEV.129.8.1829
DM Warthen, EC Moore, BM Kamath, JJD Morrissette, P Sanchez, DA Piccoli, ID Krantz, NB Spinner, Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate Human Mutation. ,vol. 27, pp. 436- 443 ,(2006) , 10.1002/HUMU.20310
Sachiko Kitanaka, Yuko Miki, Yasuhide Hayashi, Takashi Igarashi, None, Promoter-Specific Repression of Hepatocyte Nuclear Factor (HNF)-1β and HNF-1α Transcriptional Activity by an HNF-1β Missense Mutant Associated with Type 5 Maturity-Onset Diabetes of the Young with Hepatic and Biliary Manifestations The Journal of Clinical Endocrinology and Metabolism. ,vol. 89, pp. 1369- 1378 ,(2004) , 10.1210/JC.2003-031308
Alberto Montoli, Giacomo Colussi, Ornella Massa, Roberta Caccia, Gianfranco Rizzoni, Giovanni Civati, Fabrizio Barbetti, Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1β gene: Description of a new family with associated liver involvement American Journal of Kidney Diseases. ,vol. 40, pp. 397- 402 ,(2002) , 10.1053/AJKD.2002.34538
K. Devriendt, L. Dooms, W. Proesmans, F. de Zegher, E. Eggermont, V. Desmet, K. Devriendt, Paucity of intrahepatic bile ducts, solitary kidney and atrophic pancreas with diabetes mellitus: atypical Alagille syndrome? European Journal of Pediatrics. ,vol. 155, pp. 87- 90 ,(1996) , 10.1007/BF02075756
N. Iwasaki, M. Ogata, O. Tomonaga, H. Kuroki, T. Kasahara, N. Yano, Y. Iwamoto, Liver and kidney function in Japanese patients with maturity-onset diabetes of the young. Diabetes Care. ,vol. 21, pp. 2144- 2148 ,(1998) , 10.2337/DIACARE.21.12.2144
Tim Ulinski, Sandra Lescure, Sandrine Beaufils, Vincent Guigonis, Stéphane Decramer, Denis Morin, Séverine Clauin, Georges Deschênes, François Bouissou, Albert Bensman, Christine Bellanné-Chantelot, Renal Phenotypes Related to Hepatocyte Nuclear Factor-1β (TCF2) Mutations in a Pediatric Cohort Journal of the American Society of Nephrology. ,vol. 17, pp. 497- 503 ,(2006) , 10.1681/ASN.2005101040
Yukio Horikawa, Naoko Iwasaki, Manami Hara, Hiroto Furuta, Yoshinori Hinokio, Brian N. Cockburn, Tom Lindner, Kazuya Yamagata, Makiko Ogata, Osamu Tomonaga, Hiroyuki Kuroki, Tadasu Kasahara, Yasuhiko Iwamoto, Graeme I. Bell, Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. Nature Genetics. ,vol. 17, pp. 384- 385 ,(1997) , 10.1038/NG1297-384
Christine Bellanné-Chantelot, Dominique Chauveau, Jean-François Gautier, Danièle Dubois-Laforgue, Séverine Clauin, Sandrine Beaufils, Jean-Marie Wilhelm, Christian Boitard, Laure-Hélène Noël, Gilberto Velho, José Timsit, Clinical Spectrum Associated with Hepatocyte Nuclear Factor-1β Mutations Annals of Internal Medicine. ,vol. 140, pp. 510- 517 ,(2004) , 10.7326/0003-4819-140-7-200404060-00009
E L Edghill, Mutations in hepatocyte nuclear factor‐1β and their related phenotypes Journal of Medical Genetics. ,vol. 43, pp. 84- 90 ,(2005) , 10.1136/JMG.2005.032854