Congenital sodium diarrhea: A form of intractable diarrhea, with a link to inflammatory bowel disease

Journal of Pediatric Gastroenterology and Nutrition

Volumn 63, Issue 2, 2016, Pages 170-176

  Janecke, Andreas R ^a   Heinz Erian, Peter ^a   Müller, Thomas ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

Author keywords

Chronic diarrhea; Diarrhea; Guanylate cyclase; GUCY2C; Inflammatory bowel disease; Intestinal failure; Microbiota; Neonatal diarrhea; NHE3; SLC9A3; Sodium; Sodium proton exchanger; SPINT2

Indexed keywords

GUANYLATE CYCLASE; GUANYLATE CYCLASE 2C; SODIUM PROTON EXCHANGE PROTEIN 3; UNCLASSIFIED DRUG;

ARTICLE; CONGENITAL SODIUM DIARRHEA; DEHYDRATION; DIARRHEA; GENE MUTATION; HUMAN; INFLAMMATORY BOWEL DISEASE; INTESTINE ABSORPTION; INTESTINE ATRESIA; INTESTINE BRUSH BORDER MEMBRANE; LOSS OF FUNCTION MUTATION; PATHOGENESIS; POINT MUTATION; PRIORITY JOURNAL; SODIUM ABSORPTION; DIFFERENTIAL DIAGNOSIS; GENETIC MARKER; GENETIC PREDISPOSITION; GENETICS; INBORN ERROR OF METABOLISM; MULTIPLE MALFORMATION SYNDROME; MUTATION; PATHOPHYSIOLOGY; SYNDROME;

ABNORMALITIES, MULTIPLE; DIAGNOSIS, DIFFERENTIAL; DIARRHEA; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFLAMMATORY BOWEL DISEASES; METABOLISM, INBORN ERRORS; MUTATION; SYNDROME;

EID: 84979771565     PISSN: 02772116     EISSN: 15364801     Source Type: Journal    
DOI: 10.1097/MPG.0000000000001139     Document Type: Article

References (47)

1. Canani BR, 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.
2. Field M. Intestinal ion transport and the pathophysiology of diarrhea. J Clin Invest 2003;111:931-43.
3. Priyamvada S, Gomes R, Gill RK, et al. Mechanisms underlying dysregulation of electrolyte absorption in inflammatory bowel disease- associated diarrhea. Inflamm Bowel Dis 2015;21:2926-35.
4. Ghishan FK, Kiela PR. Epithelial transport in inflammatory bowel diseases. Inflamm Bowel Dis 2014;20:1099-109.
5. Uhlig HH, Schwerd T, Koletzko S, et al. The diagnostic approach to monogenic very early onset inflammatory bowel disease. Gastroenterology 2014;147:990-1007e3.
6. Booth IW, Stange G, Murer H, et al. Defective jejunal brush-border Na+/H+ exchange: a cause of congenital secretory diarrhoea. Lancet 1985;1:1066-9.
7. Holmberg C, Perheentupa J. Congenital Na+ diarrhea: a new type of secretory diarrhea. J Pediatr 1985;106:56-61.
8. Muller T, Wijmenga C, Phillips AD, et al. Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes. Gastroenterology 2000;119:1506-13.
9. Heinz-Erian P, Muller T, Krabichler B, et al. Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea. Am J Hum Genet 2009;84:188-96.
10. Müller T, Rasool I, Heinz-Erian P, et al. Congenital secretory diarrhea caused by activating germline mutations in GUCY2C. Gut 2015 [Epub ahead of print].
11. Janecke AR, Heinz-Erian P, Yin J, et al. Reduced sodium-proton exchanger NHE3 activity causes congenital sodium diarrhea. Hum Mol Genet 2015;24:6614-22.
12. Heinz-Erian P, Akdar Z, Haerter B, et al. Decreased urinary sodium-tourinary creatinine ratio identifies sodium depletion in pediatric acute gastroenteritis. Klin Padiatr 2016;228:24-8.
13. Coates AJ, Crofton PM, Marshall T. Evaluation of salt supplementation in CF infants. J Cyst Fibros 2009;8:382-5.
14. Hoglund P, Haila S, Socha J, et al. Mutations of the down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. Nat Genet 1996;14:316-9.
15. Muller T, Hess MW, Schiefermeier N, et al. MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. Nat Genet 2008;40:1163-5.
16. Wiegerinck CL, Janecke AR, Schneeberger K, et al. Loss of syntaxin 3 causes variant microvillus inclusion disease. Gastroenterology 2014;147:65-8.
17. Sivagnanam M, Mueller JL, Lee H, et al. Identification of EpCAM as the gene for congenital tufting enteropathy. Gastroenterology 2008;135: 429-37.
18. Ghishan FK, Kiela PR. Small intestinal ion transport. Curr Opin Gastroenterol 2012;28:130-4.
19. Keller KM, Wirth S, Baumann W, et al. Defective jejunal brush border membrane sodium/proton exchange in association with lethal familial protracted diarrhoea. Gut 1990;31:1156-8.
20. Fell JM, Miller MP, Finkel Y, et al. Congenital sodium diarrhea with a partial defect in jejunal brush border membrane sodium transport, normal rectal transport, and resolving diarrhea. J Pediatr Gastroenterol Nutr 1992;15:112-6.
21. Donowitz M, Mohan S, Zhu CX, et al. NHE3 regulatory complexes. J Exp Biol 2009;212:1638-46.
22. Arshad N, Visweswariah SS. The multiple and enigmatic roles of guanylyl cyclase C in intestinal homeostasis. FEBS Lett 2012;586: 2835-40.
23. Cha B, Kim JH, Hut H, et al. cGMP inhibition of Na+/H+ antiporter 3 (NHE3) requires PDZ domain adapter NHERF2, a broad specificity protein kinase G-anchoring protein. J Biol Chem 2005;280: 16642-50.
24. Chen T, Kocinsky HS, Cha B, et al. Cyclic GMP Kinase II (cGKII) inhibits NHE3 by altering its trafficking and phosphorylating NHE3 at three required sites: identification of a multifunctional phosphorylation site. J Biol Chem 2015;290:1952-65.
25. Fiskerstrand T, Arshad N, Haukanes BI, et al. Familial diarrhea syndrome caused by an activating GUCY2C mutation. N Engl J Med 2012;366:1586-95.
26. Schultheis PJ, Clarke LL, Meneton P, et al. Renal and intestinal absorptive defects in mice lacking the NHE3Na+/H+ exchanger. Nat Genet 1998;19:282-5.
27. Noonan WT, Woo AL, Nieman ML, et al. Blood pressure maintenance in NHE3-deficient mice with transgenic expression of NHE3 in small intestine. Am J Physiol Regul Integr Comp Physiol 2005;288:R685- 91.
28. Romi H, Cohen I, Landau D, et al. Meconium ileus caused by mutations in GUCY2C, encoding the CFTR-activating guanylate cyclase 2C. Am J Hum Genet 2012;90:893-9.
29. Smith A, Bulman DE, Goldsmith C, et al. Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene. Eur J Hum Genet 2015;23:990-2.
30. Rajendran VM, Nanda Kumar NS, Tse CM, et al. Na-H exchanger isoform-2 (NHE2) mediates butyrate-dependent Na+ absorption in dextran sulfate sodium (DSS)-induced colitis. J Biol Chem 2015;290: 25487-96.
31. Camilleri M, Carlson P, Acosta A, et al. RNA sequencing shows transcriptomic changes in rectosigmoid mucosa in patients with irritable bowel syndrome-diarrhea: a pilot case-control study. Am J Physiol Gastrointest Liver Physiol 2014;306:G1089-98.
32. Anderson CA, Boucher G, Lees CW, et al. Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nat Genet 2011;43:246-52.
33. Jostins L, Ripke S, Weersma RK, et al. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature 2012;491:119-24.
34. Laubitz D, Larmonier CB, Bai A, et al. Colonic gene expression profile in NHE3-deficient mice: evidence for spontaneous distal colitis. Am J Physiol Gastrointest Liver Physiol 2008;295:G63-77.
35. Larmonier CB, Laubitz D, Hill FM, et al. Reduced colonic microbial diversity is associated with colitis in NHE3-deficient mice. Am J Physiol Gastrointest Liver Physiol 2013;305:G667-77.
36. Kiela PR, Laubitz D, Larmonier CB, et al. Changes in mucosal homeostasis predispose NHE3 knockout mice to increased susceptibility to DSS-induced epithelial injury. Gastroenterology 2009;137: 965-75.
37. Sullivan S, Alex P, Dassopoulos T, et al. Downregulation of sodium transporters and NHERF proteins in IBD patients and mouse colitis models: potential contributors to IBD-associated diarrhea. Inflamm Bowel Dis 2009;15:261-74.
38. Yeruva S, Farkas K, Hubricht J, et al. Preserved Na(+)/H(+) exchanger isoform 3 expression and localization, but decreased NHE3 function indicate regulatory sodium transport defect in ulcerative colitis. Inflamm Bowel Dis 2010;16:1149-61.
39. Engevik MA, Engevik KA, Yacyshyn MB, et al. Human Clostridium difficile infection: inhibition of NHE3 and microbiota profile. Am J Physiol Gastrointest Liver Physiol 2014;308:G497-509.
40. Salomon J, Goulet O, Canioni D, et al. Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form. Hum Genet 2013;133:299-310.
41. Sivagnanam M, Janecke AR, Muller T, et al. Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea. Clin Dysmorphol 2010;19:48.
42. Mitchell KJ, Pinson KI, Kelly OG, et al. Functional analysis of secreted and transmembrane proteins critical to mouse development. Nat Genet 2001;28:241-9.
43. Kawaguchi T, Qin L, Shimomura T, et al. Purification and cloning of hepatocyte growth factor activator inhibitor type 2, a Kunitz-type serine protease inhibitor. J Biol Chem 1997;272:27558-64.
44. Itoh H, Kataoka H, Hamasuna R, et al. Hepatocyte growth factor activator inhibitor type 2 lacking the first Kunitz-type serine proteinase inhibitor domain is a predominant product in mouse but not in human. Biochem Biophys Res Commun 1999;255:740-8.
45. Faller N, Gautschi I, Schild L. Functional analysis of a missense mutation in the serine protease inhibitor SPINT2 associated with congenital sodium diarrhea. PLoS One 2014;9:e94267.
46. Szabo R, Uzzun Sales K, Kosa P, et al. Reduced prostasin (CAP1/ PRSS8) activity eliminates HAI-1 and HAI-2 deficiency-associated developmental defects by preventing matriptase activation. PLoS Genet 2012;8:e1002937.
47. Friis S, Sales KU, Schafer JM, et al. The protease inhibitor HAI-2, but not HAI-1, regulates matriptase activation and shedding through prostasin. J Biol Chem 2014;289:22319-32.