Intestinal epithelial dysplasia (tufting enteropathy)

Cuenod B, Brousse N, Goulet O, De Potter S, Mougenot JF, Ricour C, Guy-Grand D, Cerf-Bensussan N: Classification of intractable diarrhea in infancy using clinical and immunohistological criteria. Gastroenterology. 1990, 99: 1037-1043.

Goulet OJ, Brousse N, Canioni D, Walker-Smith JA, Schmitz J, Phillips AD: Syndrome of intractable diarrhoea with persistent villous atrophy in early childhood: a clinicopathological survey of 47 cases. J Pediatr Gastroenterol Nutr. 1998, 26: 151-161. 10.1097/00005176-199802000-00006.

Reifen RM, Cutz E, Griffiths AM, Ngan BY, Sherman PM: Tufting enteropathy: a newly recognized clinicopathological entity associated with refractory diarrhea in infants. J Pediatr Gastroenterol Nutr. 1994, 18: 379-385.

Goulet O, Kedinger M, Brousse N, Cuenod B, Colomb V, Patey N, de Potter S, Mougenot JF, Canioni D, Cerf-Bensussan N: Intractable diarrhea of infancy with epithelial and basement membrane abnormalities. J Pediatr. 1995, 127: 212-219. 10.1016/S0022-3476(95)70297-0.

Patey N, Scoazec JY, Cuenod-Jabri B, Canioni D, Kedinger M, Goulet O, Brousse N: Distribution of cell adhesion molecules in infants with intestinal epithelial dysplasia (tufting enteropathy). Gastroenterology. 1997, 113: 833-843. 10.1016/S0016-5085(97)70178-1.

Abely M, Hankard GF, Hugot JP, Cezard JP, Peuchmaur M, Navarro J: Intractable infant diarrhea with epithelial dysplasia associated with polymalformation. J Pediatr Gastroenterol Nutr. 1998, 27: 348-352. 10.1097/00005176-199809000-00016.

Krantz M, Jansson M, Rectors S, Ryd W, Kristiansson B: Hereditary intractable diarrhea with choanal atresia. A new familial syndrome. J Pediatr Gastroenterol Nutr. 1999, 24: 470.(A)-

Djeddi D, Verkarre V, Talbotec C: Tufting enteropathy and associated disorders [abstract]. J Pediatr Gastroenterol Nutr. 2002, 34: 446-

Hoglund P: SLC26A3 and congenital chloride diarrhoea. Novartis Found Symp. 2006, 273: 74-86.

Hihnala S, Hoglund P, Lammi L, Kokkonen J, Ormala T, Holmberg C: Long-term clinical outcome in patients with congenital chloride diarrhea. J Pediatr Gastroenterol Nutr. 2006, 42: 369-375. 10.1097/01.mpg.0000214161.37574.9a.

Muller T, Wijmenga C, Phillips AD, Janecke A, Houwen RH, Fischer H, Ellemunter H, Fruhwirth M, Offner F, Hofer S, Muller W, Booth IW, Heinz-Erian P: Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes. Gastroenterology. 2000, 119: 1506-1513. 10.1053/gast.2000.20514.

Wright EM, Turk E, Martin MG: Molecular basis for glucose-galactose malabsorption. Cell Biochem Biophys. 2002, 36: 115-121. 10.1385/CBB:36:2-3:115.

Phillips AD, Schmitz J: Familial microvillous atrophy: a clinicopathological survey of 23 cases. J Pediatr Gastroenterol Nutr. 1992, 14: 380-396.

Ruemmele FM, Schmitz J, Goulet O: Microvillous inclusion disease (microvillous atrophy). Orphanet J Rare Dis. 2006, 1: 22-10.1186/1750-1172-1-22.

Lachaux A, Bouvier R, Loras-Duclaux I, Chappuis JP, Meneguzzi G, Ortonne JP: α6β4 integrin deficiency. A new aetiology for protracted diarrhoea in infancy [abstract]. J Pediatr Gastroenterol Nutr. 1997, 24: 470-10.1097/00005176-199704000-00091.

Hermiston ML, Gordon JI: Inflammatory bowel disease and adenomas in mice expressing a dominant negative N-cadherin. Science. 1995, 270: 1203-1207. 10.1126/science.270.5239.1203.

Murch S, Graham A, Vermault A, Thomson M, Phillips A, Walker-Smith J: Functionnaly significant secondary inflammation occurs in a primary epithelial enteropathy [abstract]. Pediatr Gastroenterol Nutr. 1997, 24: 467-10.1097/00005176-199704000-00079.

Beaulieu JF: Differential expression of the VLA family of integrins along the crypt-villus axis in the human small intestine. J Cell Sci. 1992, 102: 427-436.

Simon-Assmann P, Duclos B, Orian-Rousseau V, Arnold C, Mathelin C, Engvall E, Kedinger M: Differential expression of laminin isoforms and alpha 6-beta 4 integrin subunits in the developing human and mouse intestine. Dev Dyn. 1994, 201: 71-85.

Simon-Assmann P, Bouziges F, Vigny M, Kedinger M: Origin and deposition of basement membrane heparan sulfate proteoglycan in the developing intestine. J Cell Biol. 1989, 109: 1837-1848. 10.1083/jcb.109.4.1837.

Simo P, Simon-Assmann P, Bouziges F, Leberquier C, Kedinger M, Ekblom P, Sorokin L: Changes in the expression of laminin during intestinal development. Development. 1991, 112: 477-487.

Simo P, Bouziges F, Lissitzky JC, Sorokin L, Kedinger M, Simon-Assmann P: Dual and asynchronous deposition of laminin chains at the epithelial-mesenchymal interface in the gut. Gastroenterology. 1992, 102: 1835-1845.

Simon-Assmann P, Kedinger M: Heterotypic cellular cooperation in gut morphogenesis and differentiation. Semin Cell Biol. 1993, 4: 221-230. 10.1006/scel.1993.1026.

Ng AY, Waring P, Ristevski S, Wang C, Wilson T, Pritchard M, Hertzog P, Kola I: Inactivation of the transcription factor Elf3 in mice results in dysmorphogenesis and altered differentiation of intestinal epithelium. Gastroenterology. 2002, 122: 1455-1466. 10.1053/gast.2002.32990.

Cameron DJ, Barnes GL: Successful pregnancy outcome in tufting enteropathy. J Pediatr Gastroenterol Nutr. 2003, 36: 158-10.1097/00005176-200301000-00033.

Lacaille F, Cuenod B, Colomb V, Jan D, Canioni D, Revillon Y, Ricour C, Goulet O: Combined liver and small bowel transplantation in a child with epithelial dysplasia. J Pediatr Gastroenterol Nutr. 1998, 27: 230-233. 10.1097/00005176-199808000-00021.

Paramesh AS, Fishbein T, Tschernia A, Leleiko N, Magid MS, Gondolesi GE, Kaufman SS: Isolated small bowel transplantation for tufting enteropathy. J Pediatr Gastroenterol Nutr. 2003, 36: 138-140. 10.1097/00005176-200301000-00026.

Goulet O, Sauvat F, Ruemmele F, Caldari D, Damotte D, Cezard JP, Lacaille F, Canioni D, Hugot JP, Berebi D, Sarnacki S, Colomb V, Jan D, Aigrain Y, Revillon Y: Results of the Paris program: ten years of pediatric intestinal transplantation. Transplant Proc. 2005, 37: 1667-70. 10.1016/j.transproceed.2005.03.153.

Grant D, Abu-Elmagd K, Reyes J, Tzakis A, Langnas A, Fishbein T, Goulet O, Farmer D, on the behalf of the Intestine Transplant Registry: 2003 report of the Intestine Transplant Registry: a new era has dawned. Ann Surg. 2005, 241: 607-613. 10.1097/01.sla.0000157265.85388.a1.

Kaufman SS, Atkinson JB, Bianchi A, Goulet OJ, Grant D, Langnas AN, McDiarmid SV, Mittal N, Reyes J, Tzakis AG, American Society of Transplantation: Indications for pediatric intestinal transplantation: a position paper of the american society of transplantation. Pediatr Transpl. 2001, 5: 80-87. 10.1034/j.1399-3046.2001.005002080.x.

Goulet O, Ruemmele F: Causes and management of intestinal failure. Gastroenterol. 2006, 130: 516-528.