Address of Corresponding Author

Annales Nestlé (Ed. española) 2006;64:15-23 (DOI: 10.1159/000091005)

  Palabras clave

• Diarrea intractable
• Lactancia
• Enteropatía

  Extracto

Fundamento: La diarrea intratable de la lactancia representa un problema grave que conlleva un grado elevado de morbilidad y mortalidad. Estos casos requieren una asistencia dedicada tanto por parte de los padres como del personal médico, dado que no se dispone de remedios fáciles. La escasez de pacientes indica que para progresar en el conocimiento de estos trastornos son necesarios esfuerzos internacionales concertados para combinar recursos y pacientes. Son indispensables revisiones regulares de publicaciones pertinentes para propagar los avances y airear hipótesis y criterios diagnósticos. Métodos: Ésta es una revisión de la literatura actual y preliminar sobre las anomalías congénitas de los enterocitos. Resultados: Es posible establecer diagnósticos separados dentro de este síndrome, y los criterios diagnósticos están empezando a ser aceptados. Se está informando de casos a nivel mundial y las diferencias en los cursos clínicos están empezando a evidenciarse, con mejoría de la gravedad en algunos casos. No obstante, persiste un nivel elevado de morbilidad y mortalidad. Conclusiones: Cabe recorrer todavía un largo trecho hasta poder determinar la base subyacente de los trastornos. No obstante, la esperanza de determinar la base genética de las enfermedades está empezando a ser una realidad a medida que se realicen análisis genéticos moleculares. Esto es prioritario si tenemos en cuenta la posibilidad de que proporcione criterios diagnósticos más evidentes, aclarare las relaciones de la enfermedad y suministre una información muy necesaria sobre la patogénesis.

Copyright © 2006 Nestec Ltd., Vevey/S. Karger AG, Basel

  References

1.

Avery GB, Villavicencio O, Lilly JR, Randolph JG: Intractable diarrhoea in early infancy. Pediatrics 1968;41:712-722. 

2.

Larcher VF, Shepherd R, Francis DEM, Harries JT: Protracted diarrhoea in infancy. Analysis of 82 cases with particular reference to diagnosis and management. Arch Dis Child 1977;52:597-605. 

3.

Hyman CJ, Reiter J, Rodnan J, Drash AL: Parenteral and oral alimentation in the treatment of the nonspecific protracted diarrheal syndrome of infancy. J Pediatr 1971;78:17-29. 

4.

Davidson GP, Cutz E, Hamilton JR, Gall DG: Familial enteropathy: a syndrome of protracted diarrhea from birth, failure to thrive, and hypoplastic villous atrophy. Gastroenterology 1978;75:783-790. 

5.

Candy DCA, Larcher VF, Cameron DJS, et al: Lethal familial protracted diarrhoea. Arch Dis Child 1981;56:15-23. 

6.

Cuenod B, Brousse N, Goulet O, et al: Classification of intractable diarrhea in infancy using clinical and immunohistological criteria. Gastroenterology 1990;99:1037-1043. 

7.

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. 

8.

Goulet O, Ruemmele F, Lacaille F, Colomb V: Irreversible intestinal failure. J Pediatr Gastroenterol Nutr 2004;38:250-269. 

9.

Sanderson IR, Risdon RA, Walker-Smith JA: Intractable ulcerating enterocolitis of infancy. Arch Dis Child 1991;66:295-299. 

10.

Thapar N, Shah N, Ramsay AD, Lindley KJ, Milla PJ: Long-term outcome of intractable ulcerating enterocolitis of infancy. J Pediatr Gastroenterol Nutr 2005;40:582-588. 

11.

Cutz E, Rhoads JM, Drumm B, Sherman PM, Durie PR, Forstner GG: Microvillus inclusion disease: an inherited defect of brush-border assembly and differentiation. N Engl J Med 1989;320:646-651. 

12.

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

13.

Cutz E, Sherman PM, Davidson GP: Enteropathies associated with protracted diarrhea of infancy: clinicopathological features, cellular and molecular mechanisms. Pediatr Pathol Lab Med 1997;17:335-368. 

14.

Sherman PM, Mitchell DJ, Cutz E: Neonatal enteropathies: defining the causes of protracted diarrhea of infancy. J Pediatr Gastroenterol Nutr 2004;38:16-26. 

15.

Goulet O, Phillips AD: Congenital enteropathy involving intestinal mucosa development; in Walker WA, Goulet O, Kleinman RE, Sanderson IR, Sherman P, Shneider B (eds): Paediatric Gastrointestinal Disease. Burlington, Decker, 2004, pp 922-931.

16.

Schmitz J, Ginies JL, Arnaud-Battandier F, et al: Congenital microvillous atrophy: a rare cause of neonatal intractable diarrhoea. Pediatr Res 1982;16:1014.

17.

Goutet JM, Boccon-Gibod L, Chatelet F, Ploussard JP, Navarro J, Polonovski Cl: Familial protracted diarrhoea with hypoplastic villous atrophy: report of two cases. Pediatr Res 1982;16:1045.

18.

Phillips AD, Jenkins P, Raafat F, Walker-Smith JA: Congenital microvillous atrophy: specific diagnostic features. Arch Dis Child 1985;60:135-140. 

19.

Beck NS, Chang YS, Kang IS, Park WS, Lee HJ, Suh YL: Microvillus inclusion disease in two Korean infants. J Korean Med Sci 1997;12:452-456. 

20.

Kaneko K, Shimizu T, Fujiwara S, Igarashi J, Ohtomo Y, Yamashiro Y: Microvillous inclusion disease in Japan. J Pediatr 1999;135:400. 

21.

Pohl JF, Shub MD, Trevelline EE, et al: A cluster of microvillous inclusion disease in the Navajo population. J Pediatr 1999;134:103-106. 

22.

Kennea N, Norbury R, Anderson G, Tekay A: Congenital microvillous inclusion disease presenting as antenatal bowel obstruction. Ultrasound Obstet Gynecol 2001;17:172-174. 

23.

Makela S, Kere J, Holmberg C, Hoglund P: SLC26A3 mutations in congenital chloride diarrhea. Hum Mutat 2002;20:425-438. 

24.

Keller KM, Wirth S, Baumann W, Sule D, Booth IW: Defective jejunal brush border membrane sodium/proton exchange in association with lethal familial protracted diarrhoea. Gut 1990;31:1156-1158. 

25.

Croft NM, Howatson AG, Ling SC, Nairn L, Evans TJ, Weaver LT: Microvillous inclusion disease: an evolving condition. J Pediatr Gastroenterol Nutr 2000;31:185-189. 

26.

Ruemmele FM, Jan D, Lacaille F, et al: New perspectives for children with microvillous inclusion disease: early small bowel transplantation. Transplantation 2004;77:1024-1028. 

27.

Randak C, Langnas AN, Kaufman SS, et al: Pretransplant management and small bowel-liver transplantation in an infant with microvillus inclusion disease. J Pediatr Gastroenterol Nutr 1998;27:333-337. 

28.

Nathavitharana KA, Green NJ, Raafat F, Booth IW: Siblings with microvillous inclusion disease. Arch Dis Child 1994;71:71-73. 

29.

Assmann B, Hoffmann GF, Wagner L, et al: Dihydropyrimidinase deficiency and congenital microvillous atrophy: coincidence or genetic relation? J Inherit Metab Dis 1997;20:681-688. 

30.

Heinz-Erian P, Schmidt H, Le Merrer M, Phillips AD, Kiess W, Hadorn HB: Congenital microvillus atrophy in a girl with autosomal dominant hypochondroplasia. J Pediatr Gastro enterol Nutr 1999;28:203-205.

31.

Raafat F, Green NJ, Nathavitharana KA, Booth IW: Intestinal microvillous dystrophy: a variant of microvillous inclusion disease or a new entity? Hum Pathol 1994;25:1243-1248. 

32.

Mierau GW, Wills EJ, Wyatt-Ashmead J, Hoffenberg EJ, Cutz E: Microvillous inclusion disease: report of a case with atypical features. Ultrastruct Pathol 2001;25:517-521. 

33.

Weeks DA, Zuppan CW, Malott RL, Mierau GW: Microvillous inclusion disease with abundant vermiform, electron-lucent vesicles. Ultrastruct Pathol 2003;27:337-340. 

34.

Walker-Smith JA, Phillips AD, Walford N, et al: Intravenous epidermal growth factor/urogastrone increases small intestinal cell proliferation in congenital microvillous atrophy. Lancet 1985;ii:1239-1240. 

35.

Groisman GM, Sabo E, Meir A, Polak-Charcon S: Enterocyte apoptosis and proliferation are increased in microvillous inclusion disease (familial microvillous atrophy). Hum Pathol 2000;31:1404-1410. 

36.

Phillips AD, Szafranski M, Man LY, Wall WJ: Periodic acid-Schiff staining abnormality in microvillous atrophy: photometric and ultrastructural studies. J Pediatr Gastroenterol Nutr 2000;30:34-42. 

37.

Lake BD: Microvillus inclusion disease: specific diagnostic features shown by alkaline phosphatase histochemistry. J Clin Pathol 1988;41:880-882. 

38.

Groisman GM, Ben-Izhak O, Schwersenz A, Berant M, Fyffe B: The value of polyclonal carcinoembryonic antigen immunostaining in the diagnosis of microvillus inclusion disease. Hum Pathol 1993;24:1232-1237. 

39.

Groisman GM, Amar M, Livne E: CD10: a valuable tool for the light microscopic diagnosis of microvillous inclusion disease (familial microvillous atrophy). Am J Surg Pathol 2002;26:902-907. 

40.

Bell SW, Kerner JA, Sibley RK: Microvillous inclusion disease. The importance of electron microscopy for diagnosis. Am J Surg Pathol 1991;15:1157-1164. 

41.

Fath KR, Obenauf SD, Burgess DR: Cytoskeletal protein and mRNA accumulation during brush border formation in adult chicken enterocytes. Development 1990;109:449-459. 

42.

Reinshagen K, Naim HY, Zimmer KP: Autophagocytosis of the apical membrane in microvillus inclusion disease. Gut 2002;51:514-521. 

43.

Phillips AD, Fransen JAM, Hauri HP, Sterchi E: The constitutive exocytotic pathway in microvillous atrophy. J Pediatr Gastroenterol Nutr 1993;17:239-246. 

44.

Carruthers L, Phillips AD, Dourmashkin R, Walker-Smith JA: Biochemical abnormality in brush border membrane protein of a patient with congenital microvillous atrophy. J Pediatr Gastroenterol Nutr 1985;4:902-907. 

45.

Fath KR, Trimbur GM, Burgess DR: Molecular motors are differentially distributed on Golgi membranes from polarized epithelial cells. J Cell Biol 1994;126:661-675. 

46.

Ameen NA, Salas PJ: Microvillus inclusion disease: a genetic defect affecting apical membrane protein traffic in intestinal epithelium. Traffic 2000;1:76-83. 

47.

Phillips AD, Brown A, Hicks S, et al: Acetylated sialic acid residues and blood group antigens localise within the epithelium in microvillous atrophy indicating internal accumulation of the glycocalyx. Gut 2004;53:1764-1771. 

48.

Gupta BL: The relationship of mucoid substances and ion and water transport, with new data on intestinal goblet cells and a model for gastric secretion. Symp Soc Exp Biol 1989;43:81-110. 

49.

Gillibrand PN: Changes in the electrolytes, urea and osmolality of the amniotic fluid with advancing pregnancy. J Obstet Gynaecol Br Commonw 1969;76:898-905. 

50.

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. 

51.

Goulet O, Kedinger M, Brousse N, et al: Intractable diarrhea of infancy with epithelial and basement membrane abnormalities. J Pediatr 1995;127:212-219. 

52.

Patey N, Scoazec JY, Cuenod-Jabri B, et al: Distribution of cell adhesion molecules in infants with intestinal epithelial dysplasia (tufting enteropathy). Gastroenterology 1997;113:833-843. 

53.

Schaeppi M, Shah NF, Long S, et al: Tufting enteropathy also affects the colon. J Pediatr Gastroenterol Nutr 1999;28:569.

54.

Cameron DJ, Barnes GL: Successful pregnancy outcome in tufting enteropathy. J Pediatr Gastroenterol Nutr 2003;36:158. 

55.

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. 

56.

Lachaux A, Bouvier R, Loras-Duclaux I, Chappuis JP, Meneguzzi G, Ortonne JP: Isolated deficient alpha6beta4 integrin expression in the gut associated with intractable diarrhea. J Pediatr Gastroenterol Nutr 1999;29:395-401. 

57.

Girault D, Goulet O, Le Deist F, et al: Intractable infant diarrhea associated with phenotypic abnormalities and immunodeficiency. J Pediatr 1994;125:36-42. 

58.

Martinez-Vinson C, Goulet O, Berrebi D, et al: Syndromatic diarrhea in children. Report of 8 cases. J Pediatr Gastroenterol Nutr 2005;40:651.

59.

Verloes A, Lombet J, Lambert Y, et al: Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies. Am J Med Genet 1997;68:391-395. 

60.

Landers MC, Schroeder TM: Intractable diarrhea of infancy with facial dysmorphism, trichorrhexis nodosa, and cirrhosis. Pediatr Dermatol 2003;20:432-435. 

61.

Stankler L, Lloyd D, Pollitt RJ, Gray ES, Thom H, Russell G: Unexplained diarrhoea and failure to thrive in 2 siblings with unusual facies and abnormal scalp hair shafts: a new syndrome. Arch Dis Child 1982;57:212-216. 

62.

Mention K, Michaud L, Dobbelaere D, Guimber D, Gottrand F, Turck D: Neonatal severe intractable diarrhoea as the presenting manifestation of an unclassified congenital disorder of glycosylation (CDG-x). Arch Dis Child Fetal Neonatal Ed 2001;85:F217-F219. 

63.

Murch SH, Winyard PJ, Koletzko S, et al: Congenital enterocyte heparan sulphate deficiency with massive albumin loss, secretory diarrhoea, and malnutrition. Lancet 1996;347:1299-1301. 

64.

Bode L, Eklund EA, Murch S, Freeze HH: Heparan sulfate depletion amplifies TNF-alpha-induced protein leakage in an in vitro model of protein-losing enteropathy. Am J Physiol Gastrointest Liver Physiol 2005;288:G1015-G1023. 

65.

Westphal V, Murch S, Kim S, et al: Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation. Am J Pathol 2000;157:1917-1925. 

66.

Niehues R, Hasilik M, Alton G, et al: Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy. J Clin Invest 1998;101:1414-1420. 

  Author Contacts

Alan D. Phillips, PhD
Centre for Paediatric Gastroenterology
Lower 3rd Floor, Royal Free Hospital, Pond Street
London, NW3 2QG (UK)
Tel. +44 207 830 2783, Fax +44 207 830 2146, E-Mail a.phillips@medsch.ucl.ac.uk

  Article Information

Number of Print Pages : 9
Number of Figures : 2, Number of Tables : 0, Number of References : 66

  Publication Details

Annales Nestlé (Ed. española)

Vol. 64, No. 1, Year 2006 (Cover Date: April 2006)

Journal Editor: NIL
ISSN: 0252-8185 (print), 1661-4003 (Online)

For additional information: http://www.karger.com/ANS

  Drug Dosage / Copyright

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