Recent progress in congenital diarrheal disorders

Current Gastroenterology Reports

Volumn 13, Issue 3, 2011, Pages 257-264

  Canani, Roberto Berni ^a   Terrin, Gianluca ^b  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

Congenital chloride losing diarrhea; Congenital sodium diarrhea; Enteric anendocrinosis; Enteropathy; Immune dysregulation; Microvillous inclusion disease; Polyendocrinopathy; Tufting enteropathy; X linked syndrome

Indexed keywords

ALPHA GLUCOSIDASE; BILE ACID; CHLORIDE; CHYLOMICRON; ENTEROPEPTIDASE; EPITHELIAL CELL ADHESION MOLECULE; GALACTOSE; GLUCAN 1,4 ALPHA GLUCOSIDASE; GLUCOSE TRANSPORTER 2; GLUCOSE TRANSPORTER 5; GLYCOSYLCERAMIDASE; INTERLEUKIN 2 RECEPTOR ALPHA; LACTASE PHLORIZIN HYDROLASE; NEUROGENIN 3; OLIGO 1,6 GLUCOSIDASE; SERINE PROTEINASE INHIBITOR; SODIUM GLUCOSE COTRANSPORTER 1; SUCRASE; SUCRASE ISOMALTASE; TRANSCRIPTION FACTOR FOXP3; UNCLASSIFIED DRUG;

ACRODERMATITIS ENTEROPATHICA; ANDERSON DISEASE; CELL DIFFERENTIATION; CHLORIDE DIARRHEA; CHYLOMICRON RETENTION DISEASE; CONGENITAL BILE ACID DIARRHEA; CONGENITAL SODIUM DIARRHEA; CYSTIC FIBROSIS; DIARRHEA; DIGESTION; ELECTROLYTE TRANSPORT; ENTERIC ANENDOCRINOSIS; ENTEROENDOCRINE CELL; ENTEROKINASE DEFICIENCY; FANCONI BICKEL SYNDROME; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; GLUCOSE GALACTOSE MALABSORPTION; HEREDITARY FRUCTOSE INTOLERANCE; HUMAN; IMMUNOMODULATION; INTESTINAL EPITHELIAL DYSPLASIA; INTESTINE ABSORPTION; INTESTINE CELL; IPEX SYNDROME; LACTASE DEFICIENCY; LYSINURIC PROTEIN INTOLERANCE; MALTASE GLUCOAMYLASE DEFICIENCY; MICROVILLOUS INCLUSION DISEASE; NONHUMAN; NUTRIENT UPTAKE; PATHOPHYSIOLOGY; POLARIZATION; REVIEW; SHWACHMAN SYNDROME; SUCRASE ISOMALTASE DEFICIENCY;

DIARRHEA; ENTEROCYTES; ENTEROENDOCRINE CELLS; GASTROINTESTINAL DISEASES; HUMANS; INFANT;

EID: 79955926323     PISSN: 15228037     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11894-011-0188-6     Document Type: Review

References (33)

1. Berni Canani R, Cirillo P, Terrin G. Chronic and intractable diarrhea. In: Guandalini S Ed. Essential Pediatric Gastroenterology Hepatology, and Nutrition. McGraw-Hill Mediacla Publishing Division Chicago 2005; 25-47.
2. Ruemmele FM. Chronic enteropathy: molecular basis. In Gastrointestinal Disorders. Nestlè Nutr Workshop Ser Pediatr Program. 2007; 59:73-88. This article provides an excellent review of molecular mechanisms of chronic enteropathy.
3. Berni Canani R, Terrin G, Cardillo G, et al. Congenital diarrheal disorders: improved understanding of gene defects is leading to advances in intestinal physiology and clinical management. J Pediatr Gastroenterol Nutr. 2010; 50:360-6. This article is an interesting review based on a new classification of congenital diarrhea.
4. Sherman PM, Mitchell DJ, Cutz E. Neonatal enteropathies: defining the causes of protracted diarrhea of infancy. J Pediatr Gastroenterol Nutr. 2004;38:16-26. (Pubitemid 39274462)
5. Guarino A, Spagnuolo MI, Russo S, et al. Etiology and risk factors of severe and protracted diarrea. J Pediatr Gastroenterol Nutr. 1995;20:173-8.
6. Passariello A, Terrin G, Baldassarre ME, et al. Diarrhea in neonatal intensive care unit. World J Gastroenterol. 2010;16:2664-8.
7. Heyman MB. Lactose intolerance in infants, children, and adolescents. Committee on Nutrition. Pediatrics. 2006;118:1279-86.
8. Järvelä I, Torniainen S, Kolho KL. Molecular genetics of human lactase deficiencies. Ann Med. 2009;41:568-75.
9. Torniainen S, Freddara R, Routi T, et al. Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD). BMC Gastroenterol. 2009;9:8.
10. Robayo-Torres CC, Quezada-Calvillo R, Nichols BL. Disaccharide digestion: clinical and molecular aspects. Clin Gastroenterol Hepatol. 2006;4:276-87. (Pubitemid 43343881)
11. Nichols BL, Quezada-Calvillo R, Robayo-Torres CC, et al. Mucosal maltase-glucoamylase plays a crucial role in starch digestion and prandial glucose homeostasis of mice. J Nutr. 2009;139:684-90.
12. Venkatasubramanian J, Ao M, Rao MC. Ion transport in the small intestine. Curr Opinion Gatroenterol. 2010; 26:123-8. Interesting review focusing on ions transport mechanisms.
13. Xin B, Wang H. Multiple sequence variations in SLC5A1 gene are associated with glucose-galactose malabsorption in a large cohort of Old Order Amish. Clin Genet. 2011;79(1):86-91. doi:10.1111/j.1399-0004.2010.01440.x. The authors of this interesting study report new clinical and molecular insights from a large population of affected subjects.
14. Gibson PR, Newnham E, Barrett JS, et al. Review article: fructose malabsorption and the bigger picture. Aliment Pharmacol Ther. 2007;25:349-63. (Pubitemid 46184448)
15. Leturque A, Brot-Laroche E, Le Gall M. GLUT2 mutations, translocation, and receptor function in diet sugar managing. Am J Physiol Endocrinol Metab. 2009;296:E985-92.
16. Dorwart MR, Shcheynikov N, Baker JM, et al. Congenital chloride-losing diarrhea causing mutations in the STAS domain result in misfolding and mistrafficking of SLC26A3. J Biol Chem. 2008;283:8711-22. An important study that sheds light on the role of the STAS domain in the function of the SLC26A3 gene.
17. Al Makadma AS, Al-Akash SI, Al Dalaan I, et al. Congenital sodium diarrhea in a neonate presenting as acute renal failure. Pediatr Nephrol. 2004;19:905-7. (Pubitemid 39144774)
18. Leturque A, Brot-Laroche E, Le Gall M. GLUT2 mutations, translocation, and receptor function in diet sugar managing. Am J Physiol Endocrinol Metab. 2009;296:E985-92.
19. Schmitt S, Küry S, Giraud M, et al. An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica. Hum Mutat. 2009;30:926-33.
20. Sperandeo MP, Andria G, Sebastio G. Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene. Hum Mutat. 2008;29:14-21.
21. Burroughs L, Woolfrey A, Shimamura A. Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment. Hematol Oncol Clin North Am. 2009;23:233-48.
22. Cutting GR. Modifier genes in Mendelian disorders: the example of cystic fibrosis. Ann N Y Acad Sci. 2010;1214:57-69. doi:10.1111/j.1749-6632.2010.05879. x.
23. Holzinger A, Maier EM, Bück C, et al. Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency. Am J Hum Genet. 2002;70:20-5. (Pubitemid 34031694)
24. Zamel R, Khan R, Pollex RL, Hegele RA. Abetalipoproteinemia: two case reports and literature review. Orphanet J Rare Dis. 2008;3:19.
25. Marcil V, Peretti N, Delvin E, Levy E. Digestive and absorptive processes of lipids. Gastroenterol Clin Biol. 2004;28:1257-66.
26. Shneider BL. Intestinal bile acid transport: biology, physiology, and pathophysiology. J Pediatr Gastroenterol Nutr. 2001;32:407-17. (Pubitemid 32488295)
27. Müller T, Hess MW, Schiefermeier N, et al. MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. Nat Genet. 2008; 40:1163-5. This well-designed study suggests a defect in MYO5B as a cause of disease.
28. Iancu TC, Mahajnah M, Manov I, Shaoul R. Microvillous inclusion disease: ultrastructural variability. Ultrastruct Pathol. 2007;31:173-88. (Pubitemid 47037188)
29. Sivagnanam M, Mueller JL, Lee H, et al. Identification of EpCAM as the gene for congenital tufting enteropathy. Gastroenterology. 2008;135:429-37. This is the first article describing the gene responsible for the disease.
30. Wang J, Cortina G,Wu SV, et al. Mutant neurogenin-3 in congenital malabsorptive diarrhea. N Engl J Med. 2006;355:270-80. (Pubitemid 44079341)
31. Bjerknes M, Cheng H. Neurogenin 3 and the enteroendocrine cell lineage in the adult mouse small intestinal epithelium. Dev Biol. 2006;300:722-35. (Pubitemid 44914135)
32. Blanco Quirós A, Arranz Sanz E, Bernardo Ordiz D, Garrote Adrados JA. From autoimmune enteropathy to the IPEX (immune dysfunction, polyendocrinopathy, enteropathy, X-linked) syndrome. Allergol Immunopathol. 2009;37:208-15.
33. Sharma R, Ju ST. Genetic control of the inflammatory T-cell response in regulatory T-cell deficient scurfy mice. Clin Immunol 2010;136:162-9. The authors provide a well-written review on the role of regulatory T cells.