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ISSN 1561-3119 (Electronic)

2022, Number 2

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Rev Cubana Pediatr 2022; 94 (2)

Congenital enteropathies and their diagnostic implication in intestinal epithelial dysplasia or plume enteropathy

Castañeda GC, García BE

Language: Spanish
References: 64
Page: 1-26
PDF size: 723.15 Kb.


ABSTRACT

Introduction: Intestinal epithelial dysplasia or plume enteropathy is a rare and serious disease due to genetic mutations, categorized as congenital enteropathy due to the defect of enterocyte transport and their polarity.
Objective: Examine the most recent knowledge on the diagnostic orientation of congenital enteropathies in the clinical context of intractable chronic diarrhea of the postnatal period and first months of life.
Methods: Analysis of publications in Spanish and English in PubMed, Scimago, ScIELO until April 2021 related to this topic. The terms intractable diarrhea, congenital enteropathies, intestinal epithelial dysplasia, plume enteropathy and diseases were used for differential diagnosis.
Analysis and integration of information: Criteria on intractable diarrhea, and congenital enteropathies were described; and their classification. Features of intestinal epithelial dysplasia and its manifestations of clinical, histopathological forms and genetic mutations, epidemiology, diagnosis of certainty and differential for conditions due to congenital defects related to epithelial transit and polarity were reviewed; treatment, prognosis and update on the importance of rare diseases.
Conclusions: The most recent knowledge related to rare diseases due to congenital enteropathies and in particular about intestinal epithelial dysplasia or plume enteropathy is reviewed. Its clinical, histopathological and genetic manifestations are described, epidemiology, treatment and its challenges. Emphasis was placed on criteria on the diagnostic significance of rare diseases related to congenital enteropathies.


REFERENCES

  1. Thiagarajah JR, Kamin DS, Acra S, Goldsmith JD, Roland JT, Lencer WE. et al. Advances in Evaluation of Chronic Diarrhea in Infants. Gastroenterology.2018;154:2045-59.e6.DOI: 10.1053/j.gastro.2018.03.067

  2. Bordini J, Kliegman RM, Basel R, Norton JJ. Undiagnosed and Rare Diseases in Perinatal Medicine: Uncommon Manifestations or Mimics of Neonatal Disorders. Clin Perinatol 2020;47(1):1-14. DOI: 10.1016/j.clp.2019.10.002

  3. Walker-Smith JA. Intractable diarrhea in infancy. Saudi J Gastroenterol. 1995;1(3):152-6. Disponible en: audijgastro.com/article.asp?issn=1319-3767;year=1995;volume=1;issue=3;spage=152;epage=156;aulast=Walker-Smith#:~:text=Definition,clear%20from%20Avery's%20original%20report

  4. Shankar S, Rosenbaum J. Chronic diarrhea in children: A practical algorithm based in approach. J Pediatr Child Health. 2020;56(7):1029.1038. DOI: 10.1111/jpc.14986

  5. Elkadri AA. Congenital Diarrhea Syndrome. Cinl Perinatol. 2019;47(1):87-104. DOI: 10.1016/j.clp.2019.10.010

  6. Richter T, Nestler-Parr S, Babela R, Khan ZM, Tesoro T, Molsen E, et al. Rare disease, terminology and definition-A Systematic Global Review: Report of the ISPOR Rare Dis Special Interest Group. Value Health. 2015;18:906-14. DOI: 10.1016/j.jval.2015.05.008

  7. Mushtaq I, Cheema HA, Malik HS, Wahee N, Hashmi MA. Causes of chronic Non-infectious diarrhea in infants less than 6 months of age: Rarely recognized entities. J Ayub Med Coll Abbottabad. 2017 [acceso 06/05/2021];29(1). Disponible en: https://jamc.ayubmed.edu.pk/jamc/index.php/jamc/article/view/1290/8717.

  8. Russo P. Updates in Pediatric Congenital Enteropathies: Differential Diagnosis, Testing, and Genetics. Surg Pathol Clin. 2020;13(4):581-600 DOI: 10.1016/j.path.2020.08.001

  9. Wakap SN, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet date base. Eur J Hum Genet. 2020;28:165-73. DOI: https://doi.org/10.1038/s41431-019-0508-09.

  10. González JO, Aguilar L. Las enfermedades raras: una mirada desde la pediatría. Finlay 2019 [acceso 05/05/2021];9(1). Disponible en: http://www.revfinlay.sld.cu/index.php/finlay/article/view/65210.

  11. Avery GB, Villavicencio O and Lilly JR. Intractable diarrhea in early infancy. Pediatr 1969 [acceso 05/05/2021];41:712. Disponible en: https://pubmed.ncbi.nlm.nih.gov/5643979/11.

  12. Camilleri M, Sellin JH, Barrett KE. Pathophysiology, evaluation, and management of chronic watery diarrhea. Gastroenterol. 2017;152:515-32.e2. DOI: 10.1053/j.gastro.2016.10.014

  13. Ensari A, Kelsen J, Russo P. Newcomer in pediatric GI pathology: childhood enteropathy includimg very early onset monogenic IBD. Virhows Arch Int J Pathol. 2018;472(1):111-23. DOI: 10.1007/s00428-017-2197-9

  14. Goulet O. Conferencia. Extraordinaria. Diarrea congénita. Desde la cama al laboratorio. 6 mayo 2021. Colombia: Representación de la Sociedad Latino Americana de Gastroenterología, Hepatología y Nutrición Pediátrica (LASPGANTV); 2021. DIsponible en: https://laspghan.org/index.php/es/component/content/article/2-noticias/laspghantv/105-congenital-diarrhea-from-the-bed-side-to-the-lab-dr-olivier-goulet14.

  15. Cai C, Chen Y, Chen X, Ji F. Tufting Enteropathy: A Review of Clinical and Histological Presentation, Etiology, Management, and Outcome. Gastroenterol. Res Pract. 2020;2020:5608069. DOI: 10.1155/2020/5608069

  16. Reifen RM, Cutz E, Griffiths AM, Ngan BY, Sherman PM. Tufting enteropathy: A newly recognized clinic pathological entity associated with refractory diarrhea in infants. J Pediatr Gastroenterol Nutr.1994;18:379-85. DOI: 10.1097/00005176-199404000-00022

  17. Goulet O, Kedinger M, Brousse N, Cuenod B, Colomb V, Patey N, et al. Intractable diarrhea of infancy with epithelial and basement membrane abnormalities. J Pediatr. 1995;127:212-19. DOI: 10.1016/S0022-3476(95)70297-0

  18. Goulet O, Brousse N, Canon ID, Walker-Smith JA, Schmitz J, Phillips D. Syndrome intractable diarrhoea with persistent villous atrophy in early childhood: a clinic pathological survey of 47 cases. J Pediatr Gastroenterol Nutr.1998;26(2):151-61.DOI: 10.1097/00005176-199802000-00006

  19. Davidson GP, Cutz E, Hamilton JR, Gall DG. Familial enteropathy: A syndrome of protracted diarrhea from birth, failure to thrive, and hypoplastic villus atrophy. Gastroenterology.1978;75: 783-90. DOI: 10.1016/0016-5085(78)90458-4

  20. Goulet O, Salomon J, Ruemmele F, Natacha Patey-Mariaud de Serres N, Brousse N. Intestinal epithelial dysplasia (tufting enteropathy). Orphanet J Rare Dis. 2007;2:20. DOI:10.1186/1750-1172-2-20

  21. Hassan K, Sher G, Hazima KA, Al-Mudahka F, et al. Outcome associated with EPCAM founder mutation c.499dup in Qatar. Eur J Med Gen. 2020;63(10)104023. DOI: 10.1016/j.ejmg.2020.104023

  22. Al-Mahamed S, Hammo A. New mutations of EpCAM gene for tufting enteropathy in Saudi Arabia. Saudi J Gastroenterol. 2017;23(2):123-26. DOI: 10.4103/1319-3767.203359

  23. Pathak SJ, Mueller JL, Okamoto K, Das B, Hertecant J, Greenhalgh L, et al. EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome. Hum Mutat. 2019;40:142-61. DOI: 10.1002/humu.23688

  24. Das B, Okamoto K, Rabalais J, Kozan PA, Marchelletta RR, McGeough MD, et al. Enteroids expressing a disease-associated mutant of EpCAM are a model for congenital tufting enteropathy. J Physiol Gastrointest Liver Physiol. 2019;1;317(5):G580-G591. DOI: 10.1152/ajpgi.00098.2019

  25. Tang W, Huang T, Xu Z, Huang Y. Novel Mutations in EPCAM Cause Congenital Tufting Enteropathy. J Clin Gastroenterol. 2018;52(1):e1-e6. DOI: 10.1097/MCG.0000000000000739

  26. Sivagnanam M, Mueller JL, Lee H, Chen Z, Nelson SF,Turner D, et al. Identification of EpCAM as the gene for congenital tufting enteropathy. Gastroenterology 2008;135(2):429-37. DOI: 10.1053/j.gastro.2008.05.036. Epub 2008 May 15.

  27. Salomon J, Goulet O, Canioni D, Brousse N, Lemale J, Tounian P, et al. Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvementof SPINT2 in the syndromic form. Hum Genet 2014;133(3):299-310. DOI: 10.1007/s00439-013-1380-6. Epub 2013 Oct 19.

  28. Zhou Y-Q, Wu G-S, Kong Y-M, Zhang X-Y, Wang C-L. New mutation in EPCAM for congenital tufting enteropathy: A case report. World J Clin Cases.2020;8(20):4975-80. DOI: 10.12998/wjcc.v8.i20.4975

  29. Tan QK, Cardona DM, Rehder CW, McDonald MT. Identification of EPCAM mutation: clinical use of microarray. Clin Case Rep. 2017;5(6):980-5. DOI: 10.1002/ccr3.914

  30. Tang W, Huang T, Xu Z, Huang Y. Novel Mutations in EPCAM Cause Congenital Tufting Enteropathy. J Clin Gastroenterol. 2018;52(1):e1-e6. DOI: 10.1097/MCG.0000000000000739

  31. Fang Y, Luo Y, Yu J, Chen J. A case of severe malnutrition infant with neonatal onset intractable diarrhea. BMC Pediatr. 2020;20(1):133. DOI: 10.1186/s12887-020-1999-0

  32. Ng C, Magri K, Giordmaina R, Whitwell D. Bilateral Total Hip and Unilateral Knee Arthroplasties in a Young Adult with Arthropathy-Associated Intestinal Epithelial Dysplasia (Tufting Enteropathy). Case Rep Orthop. 2018;2018:4630759. DOI: 10.1155/2018/4630759

  33. Gaber A, Lenarčič B, Pavšič M. Current View on EpCAM Structural Biology. Cells. 2020;9(6):1361. DOI: 10.3390/cells9061361.PMID: 32486423

  34. Xue J, Thomas L, Tahmasbi M, Valdez A, Domínguez Rieg JA, Fenton RA, et al. An inducible intestinal epithelial cell-specific NHE3 knockout mouse model mimicking congenital sodium diarrhea. Clin Sci (Lond). 2020;134(8):941-53. DOI: 10.1042/CS20200065

  35. Guyton AC, Hall JE. Tratado de Fisiología Médica. 12va ed. Guyton, Hall, editors. Digestión y Absorción en el Tubo Digestivo. Madrid: Elseiver-Sanders. 2011.p. 789-98.

  36. Ernst J, Hiasat J, Alabek ML, Scanga HL, MotleyWi, Nischal KK. Expansion of the ophthalmic phenotype of SPINT2-related syndromic congenital sodium diarrhea. Amer J Med Gen (AJMG). 2021;185(4):1270-4. DOI: https://doi.org/10.1002/ajmg.a.6209436.

  37. Janecke AR, Heinz-Erian P, Müller T. Congenital Sodium Diarrhea: A Form of Intractable Diarrhea, With a Link to Inflammatory Bowel Disease. J Pediatrt Gastroenterol Nutr. 2016;63: 170-6. DOI: 10.1097/MPG.0000000000001139

  38. Orphanet database. The portal for rare diseases and orphan drugs ORPHA 103908. Paris: Orphanet; 2020 acceso 29/04/2021; Congenital sodium diarrea. Disponible en: https://www.orpha.net/consor4.01/www/cgi-bin/Disease_Search.php?lng=EN&data_id=1498438.

  39. Dimitrov G, Bamberger S, Navard C, Dreux S, Badens C, Bourgeois P, et al. Congenital Sodium Diarrhea by mutation of the SLC9A3 gene. Eur J Med Genet. 2019;62(10):103712. DOI: https://doi.org/10.1016/j.ejmg.2019.10371239.

  40. Hirabayashi KE, Moore AT, Mendelsohn BA, Taft RJ, Chawla A, Perry D. Clinical Report. Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys). Amer J Med Gen (AJMG). 2018;176(4):997-1000. DOI: https://doi.org/10.1002/ajmg.a.3863740.

  41. Holt-Danborg L, Vodopiutz L, Nonboe AW, De Laffolie J, Skovbjerg S, Wolters VM, et al. SPINT2 (HAI-2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI-2 to inhibit prostasin but not matriptase. Hum Mol Gen. 2019(citado 28 de abril de 2021) ;28(5):828-41. DOI: 10.1093/hmg/ddy394

  42. Coronado AK, Chanis R, McCarthy F. Clorhidrorrea congénita en lactante: Reporte de un caso. Pediátr Panam. 2017 [acceso 25/04/2021];46(3):46-9. Disponible en: https://docs.bvsalud.org/biblioref/2018/02/877524/2017-46-3-46-49.pdf42.

  43. Purón Barreras J., González Celaá F, Fernández Oliva O, Reyes Ramírez E, de la Cruz Delgado JR, Forjans Paneque A. Reporte de segundo caso en Cuba de clorhidrorrea congénita Rev. cuban. pediatr. 2014 [acceso 25/04/2021]; 86(3):376-80. Disponible en: https://www.medigraphic.com/pdfs/revcubped/cup-2014/cup143l.pdf43. .

  44. Orphanet database. The portal for rare diseases and orphan drugs. ORPHA: 53689. Congenital chloride diarrhea. Paris: Orphanet; 2021 [acceso 25/04/2021]. Disponible en: Rehttps://www.orpha.net/consor/cgibin/Disease_Search.php?lng=EN&data_id=1073444.

  45. Wang W, Wanh NS, Ma M. Literature review on congenitalg lucose-galactose malabsorption from 2001 to 2019. J Paediatr Child Health. 2020 56(11):1779-84. DOI: 10.1111/jpc.14702. Epub 2020 Sep 18.

  46. Yavanoglu AF, DermeT, Uras N, Ceylaner G, Ceylaner S, Nur SF, et al. Congenital Glucose-Galactose Malabsorption in a Turkish. Dig Dis Sci. 2017;62:280-1. DOI 10.1007/s10620-016-4348-2.

  47. Ma M, Long Q, Chen F, Zhang T, Lu M, Wang W, et al. Nutrition management of congenital glucose-galactose malabsorption. Case report of a Chinesee infant. Medicine 2019;98(33):1-5. DOI: http://dx.doi.org/10.1097/MD.000000000001682847.

  48. Plata García C, Peña S, Rodríguez Urrego O, Mora Quintero D, Sánchez Franco C, Sarmiento Quintero F. Malabsorción de glucosa galactosa diagnosticada erróneamente como diabetes insípida en un lactante con diarrea. Acta Gastroenterol Latinoam. 2017 [acceso 23/04/2021];47(2):141-3. Disponible en: http://www.actagastro.org/numeros-anteriores/2017/Vol-47-N2/Vol47N2-PDF13.pdf48.

  49. Choen K, Puchia A, González I, Torres MT, Espinosa R, González R. Enfermedad por inclusión microvellositaria como causa de diarrea congénita severa. Caso clínico. Rev Chil Pediatr. 2017;88(5):662-7 DOI: 10.4067/S0370-41062017000500015

  50. González Corona EA. Diarrea aguda, prolongada y persistente en niños y su diferencia de la diarrea. Medisan (Santiago de Cuba) 2017 [acceso 23/04/2021];21(9):2047. Disponible en: http://scielo.sld.cu/pdf/san/v21n9/san12219.pdf50.

  51. Jayawardena D, Alrefai WA, Dudeja PK, Gill RK. Recent advances in understanding and managing malabsorption: focus on microvillus inclusion disease. F1000Res. 2019;8:F1000 Faculty Rev-2061. DOI: 10.12688/f1000research.20762.1

  52. Cheng Y, Liang H-Y, Cai N-L, Guo L, Huang Y-G, Song Y-Z, et al. Clinical features and MYO5B mutations of a family affected by microvillus inclusion diseases. ZhongguoDangDai ErKeZa Zhi. 2017;19:968-74. DOI: 10.7499/j.issn.1008-8830.2017.09.007

  53. Orphanet database. The portal for rare diseases and orphan drugs. ORPHA: 2290. Enfermedad de inclusión microvellosa. Paris: Orphanet; 2017[acceso 20/04/2021]. Disponible en: https://www.orpha.net53. consor cgi-bin

  54. Müller T, Hess MW, Schiefermeier NW, Pfaller K, Ebner HL, Heinz-Erian P. MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. Nat Genet. 2008;40(10):1163-5. DOI: 10.1038/ng.225

  55. Leng C, Rings EHHM, de Wildt SN, van IJzendoorn SCD. Pharmacological and Parenteral Nutrition-Based Interventions in Microvillus Inclusion Disease. J Clin Med. 2020;10(1):22. DOI: 10.3390/jcm10010022

  56. Hess MW, Krainer IM, Filipek PA, Witting B, Gutleben K, Vietor I, et al. Advanced Microscopy for Liver and Gut Ultrastructural Pathology in Patients with MVID and PFIC Caused by MYO5B Mutations. J Clin Med.2021;10(9):1901. DOI: 10.3390/jcm10091901

  57. Fabre A, Bourgeois P, Coste M-E, Roman C, Barlogis V, Badens C. Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature. Intractable Rare Dis Res.2017;6(3):152-7. DOI: 10.5582/irdr.2017.01040

  58. Bourgeois P, Esteve C, Chaix C, Béroud C, Lévy N; THES clinical cionsensus: Fabre A, Badens C. Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects. Hum Mutat. 2018;39(6):774-89. DOI: 10.1002/humu.23418

  59. Xinias I, Mavroudi A, Mouselimis D, Tsarouchas A, Vasilaki K, Roides I, et al. Trichohepatoenteric syndrome: A rare mutation in SKIV2L gene in the first Balkan reported case. eCollection 201. SAGE Open Med Case Rep. 2018;6:. DOI: 10.1177/2050313X18807795

  60. Fabre A , Petit L-M, Harriosn LF, Wewer AV, Esteve C, Chaix C. A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families. Am J Med Genet A. 2018;176(3):727-32. DOI: 10.1002/ajmg.a.38618

  61. Vicente E, Pruneda L, Ardanaz E. Paradoja de la rareza: a propósito del porcentaje de población afectada por enfermedades raras. Gac Sanit. 2020;34(6):536-8. DOI: https://doi.org/10.1016/j.gaceta.2020.02.01261.

  62. National Center for Advancing Translational Sciences (NCATS), Genetic and Rare Diseases Information Center (GARD). About GARD. EE. UU.: National Center; 2022 [acceso 20/04/2021]. Disponible en: https://rarediseases.info.nih.gov/about-gard/pages/23/about-gard62.

  63. Chaves A, Denis M. Enfermedades Raras en Latinoamérica. Desafíos y oportunidades para la atención equitativa y propuesta de las Organizaciones de Paciente. ISPOR News Across. Latin Am. 2017 [acceso 20/04/2021]. Disponible en: http://press.ispor.org/LatinAmerica/2017/09/enfermedades-raras-en-latinoamerica-desafios-y-oportunidades-para-la-atencion-equitativa-y-propuesta-de-las-organizaciones-de-pacientes/63.

  64. Rodríguez R. ¿Cuántas enfermedades raras existen? España: National Geographic; 2020 [acceso 20/04/2021]. Disponible en: https://www.nationalgeographic.com.es/ciencia/cuantas-enfermedades-raras-existen_15165564.




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