Congenital Sodium Diarrhea: A Form of Intractable Diarrhea, With a Link to Inflammatory Bowel Disease
作者： Andreas R. Janecke , Peter Heinz-Erian , Thomas Müller
DOI: 10.1097/MPG.0000000000001139
关键词: Genetic heterogeneity 、 Pathology 、 Enteroendocrine cell differentiation 、 Intestinal mucosa 、 Differential diagnosis 、 Dysplasia 、 Pathophysiology 、 Medicine 、 Immunology 、 Inflammatory bowel disease 、 Diarrhea
摘要: Congenital diarrheal disorders (CDDs) represent a group of challenging clinical conditions for pediatricians because the severity presentation and broad range possible differential diagnoses. CDDs arise from alterations in transport nutrients electrolytes across intestinal mucosa, enterocyte enteroendocrine cell differentiation and/or polarization defects, modulation immune response. Advances were made recently deciphering etiology pathophysiology one these disorders, congenital sodium diarrhea (CSD). CSD refers to an intractable intrauterine onset with high fecal loss. is clinically genetically heterogeneous. A syndromic form features choanal atresias as well recurrent corneal erosions. Small bowel histology frequently detects epithelial "tufting" dysplasia. It autosomal recessively inherited, caused by SPINT2 mutations. The nonsyndromic can be dominant activating mutations GUCY2C, encoding receptor guanylate cyclase C (GC-C), recessive SLC9A3 loss-of-function encodes Na/H antiporter 3, major brush border exchanger, downstream target GC-C. number patients GUCY2C developed inflammatory disease. Both recognized CDD forms underlying disease genes are gradually increasing. Knowledge enables noninvasive, next-generation gene panel-based testing facilitate early diagnosis CDD. Primary 3 GC-C malfunction implicated predisposition subset patients.
sci-hub.se 参考文章(46)
Kevin J. Mitchell, Kathy I. Pinson, Olivia G. Kelly, Jane Brennan, Joel Zupicich, Paul Scherz, Philip A. Leighton, Lisa V. Goodrich, Xiaowei Lu, Brian J. Avery, Peri Tate, Kariena Dill, Edivinia Pangilinan, Paul Wakenight, Marc Tessier-Lavigne, William C. Skarnes, Functional analysis of secreted and transmembrane proteins critical to mouse development Nature Genetics. ,vol. 28, pp. 241- 249 ,(2001) , 10.1038/90074
Patrick J. Schultheis, Lane L. Clarke, Pierre Meneton, Marian L. Miller, Manoocher Soleimani, Lara R. Gawenis, Tara M. Riddle, John J. Duffy, Thomas Doetschman, Tong Wang, Gerhard Giebisch, Peter S. Aronson, John N. Lorenz, Gary E. Shull, Renal and intestinal absorptive defects in mice lacking the NHE3 Na+/H+ exchanger Nature Genetics. ,vol. 19, pp. 282- 285 ,(1998) , 10.1038/969
Andreas R. Janecke, Peter Heinz-Erian, Jianyi Yin, Britt-Sabina Petersen, Andre Franke, Silvia Lechner, Irene Fuchs, Serge Melancon, Holm H. Uhlig, Simon Travis, Evelyne Marinier, Vojislav Perisic, Nina Ristic, Patrick Gerner, Ian W. Booth, Satu Wedenoja, Nadja Baumgartner, Julia Vodopiutz, Marie-Christine Frechette-Duval, Jan De Lafollie, Rabindranath Persad, Neil Warner, C. Ming Tse, Karan Sud, Nicholas C. Zachos, Rafiquel Sarker, Xinjun Zhu, Aleixo M. Muise, Klaus-Peter Zimmer, Heiko Witt, Heinz Zoller, Mark Donowitz, Thomas Müller, Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea. Human Molecular Genetics. ,vol. 24, pp. 6614- 6623 ,(2015) , 10.1093/HMG/DDV367
Vazhaikkurichi M Rajendran, Navalpur S Nanda Kumar, M Tse Chung, Henry J Binder, None, Na-H Exchanger Isoform-2 (NHE2) Mediates Butyrate-dependent Na+ Absorption in Dextran Sulfate Sodium (DSS)-induced Colitis Journal of Biological Chemistry. ,vol. 290, pp. 25487- 25496 ,(2015) , 10.1074/JBC.M115.654277
Roman Szabo, Katiuchia Uzzun Sales, Peter Kosa, Natalia A. Shylo, Sine Godiksen, Karina K. Hansen, Stine Friis, J. Silvio Gutkind, Lotte K. Vogel, Edith Hummler, Eric Camerer, Thomas H. Bugge, Reduced Prostasin (CAP1/PRSS8) Activity Eliminates HAI-1 and HAI-2 Deficiency–Associated Developmental Defects by Preventing Matriptase Activation PLoS Genetics. ,vol. 8, pp. e1002937- ,(2012) , 10.1371/JOURNAL.PGEN.1002937
M. Donowitz, S. Mohan, C. X. Zhu, T.-E Chen, R. Lin, B. Cha, N. C. Zachos, R. Murtazina, R. Sarker, X. Li, NHE3 regulatory complexes The Journal of Experimental Biology. ,vol. 212, pp. 1638- 1646 ,(2009) , 10.1242/JEB.028605
Alison J. Coates, Patricia M. Crofton, Tom Marshall, Evaluation of salt supplementation in CF infants Journal of Cystic Fibrosis. ,vol. 8, pp. 382- 385 ,(2009) , 10.1016/J.JCF.2009.08.006
Christer Holmberg, Jaakko Perheentupa, Congenital Na+ diarrhea: A new type of secretory diarrhea The Journal of Pediatrics. ,vol. 106, pp. 56- 61 ,(1985) , 10.1016/S0022-3476(85)80465-0
Carl A Anderson, Gabrielle Boucher, Charlie W Lees, Andre Franke, Mauro D'Amato, Kent D Taylor, James C Lee, Philippe Goyette, Marcin Imielinski, Anna Latiano, Caroline Lagacé, Regan Scott, Leila Amininejad, Suzannah Bumpstead, Leonard Baidoo, Robert N Baldassano, Murray Barclay, Theodore M Bayless, Stephan Brand, Carsten Büning, Jean-Frédéric Colombel, Lee A Denson, Martine De Vos, Marla Dubinsky, Cathryn Edwards, David Ellinghaus, Rudolf SN Fehrmann, James AB Floyd, Timothy Florin, Denis Franchimont, Lude Franke, Michel Georges, Jürgen Glas, Nicole L Glazer, Stephen L Guthery, Talin Haritunians, Nicholas K Hayward, Jean-Pierre Hugot, Gilles Jobin, Debby Laukens, Ian Lawrance, Marc Lémann, Arie Levine, Cecile Libioulle, Edouard Louis, Dermot P McGovern, Monica Milla, Grant W Montgomery, Katherine I Morley, Craig Mowat, Aylwin Ng, William Newman, Roel A Ophoff, Laura Papi, Orazio Palmieri, Laurent Peyrin-Biroulet, Julián Panés, Anne Phillips, Natalie J Prescott, Deborah D Proctor, Rebecca Roberts, Richard Russell, Paul Rutgeerts, Jeremy Sanderson, Miquel Sans, Philip Schumm, Frank Seibold, Yashoda Sharma, Lisa A Simms, Mark Seielstad, A Hillary Steinhart, Stephan R Targan, Leonard H Van Den Berg, Morten Vatn, Hein Verspaget, Thomas Walters, Cisca Wijmenga, David C Wilson, Harm-Jan Westra, Ramnik J Xavier, Zhen Z Zhao, Cyriel Y Ponsioen, Vibeke Andersen, Leif Torkvist, Maria Gazouli, Nicholas P Anagnou, Tom H Karlsen, Limas Kupcinskas, Jurgita Sventoraityte, John C Mansfield, Subra Kugathasan, Mark S Silverberg, Jonas Halfvarson, Jerome I Rotter, Christopher G Mathew, Anne M Griffiths, Richard Gearry, Tariq Ahmad, Steven R Brant, Mathias Chamaillard, Jack Satsangi, Judy H Cho, Stefan Schreiber, Mark J Daly, Jeffrey C Barrett, Miles Parkes, Vito Annese, Hakon Hakonarson, Graham Radford-Smith, Richard H Duerr, Séverine Vermeire, Rinse K Weersma, John D Rioux, None, Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nature Genetics. ,vol. 43, pp. 246- 252 ,(2011) , 10.1038/NG.764
Mamata Sivagnanam, James L. Mueller, Hane Lee, Zugen Chen, Stanley F. Nelson, Dan Turner, Stanley H. Zlotkin, Paul B. Pencharz, Bo–Yee Ngan, Ondrej Libiger, Nicholas J. Schork, Joel E. Lavine, Sharon Taylor, Robert O. Newbury, Richard D. Kolodner, Hal M. Hoffman, Identification of EpCAM as the Gene for Congenital Tufting Enteropathy Gastroenterology. ,vol. 135, pp. 429- 437 ,(2008) , 10.1053/J.GASTRO.2008.05.036