Research & Literature

Predictors of Enteral Autonomy in Children with Intestinal Failure: A Multicenter Cohort Study.

Khan FA, Squires RH, Litman HJ, et al.

The Journal of pediatrics 2015; (167(1)):29-34.e1.

[Tufting enteropathy: a case report, histopathological methodology, and differential diagnoses].

Bosaleh A, Contreras M, García de Dávila MT

Acta gastroenterologica Latinoamericana 2015; (45(1)):65-9.

[THE WORLD EXPERIENCE OF THE PEDIATRIC INTESTINAL FAILURE PROGRAM: SUCCESSFUL OUTCOMES FROM INTESTINAL REHABILITATION].

Abbou B, Sukhotnik I, Rofe A

Harefuah 2015; (154(12)):782-5, 804.

Outcome of home parenteral nutrition in 251 children over a 14-y period: report of a single center.

Abi Nader E, Lambe C, Talbotec C, et al.

The American journal of clinical nutrition 2016; (103(5)):1327-36 doi:10.3945/ajcn.115.121756.

Poor Prognostic Factors in Patients with Parenteral Nutrition-Dependent Pediatric Intestinal Failure.

Choi SJ, Lee KJ, Choi JS, et al.

Pediatric gastroenterology, hepatology & nutrition 2016; (19(1)):44-53 doi:10.5223/pghn.2016.19.1.44.

Management of short bowel syndrome in postoperative very low birth weight infants.

Mayer O, Kerner JA

Seminars in fetal & neonatal medicine 2017; (22(1)):49-56 doi:10.1016/j.siny.2016.08.001.

Novel Mutations in EPCAM Cause Congenital Tufting Enteropathy.

Tang W, Huang T, Xu Z, Huang Y

Journal of clinical gastroenterology 2018; (52(1)):e1-e6 doi:10.1097/MCG.0000000000000739.

Contractile forces at tricellular contacts modulate epithelial organization and monolayer integrity.

Salomon J, Gaston C, Magescas J, et al.

Nature communications 2017; (8()):13998 doi:10.1038/ncomms13998.

Matriptase-mediated cleavage of EpCAM destabilizes claudins and dysregulates intestinal epithelial homeostasis.

Wu CJ, Feng X, Lu M, et al.

The Journal of clinical investigation 2017; (127(2)):623-634 doi:10.1172/JCI88428.

When Is Parenteral Nutrition Appropriate?

Worthington P, Balint J, Bechtold M, et al.

JPEN. Journal of parenteral and enteral nutrition 2017; (41(3)):324-377 doi:10.1177/0148607117695251.

New mutations of EpCAM gene for tufting enteropathy in Saudi Arabia.

AlMahamed S, Hammo A

Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology Association 2017; (23(2)):123-126 doi:10.4103/1319-3767.203359.

Identification of EPCAM mutation: clinical use of microarray.

Tan QK, Cardona DM, Rehder CW, McDonald MT

Clinical case reports 2017; (5(6)):980-985 doi:10.1002/ccr3.914.

Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy.

Bodian DL, Vilboux T, Hourigan SK, et al.

Cold Spring Harbor molecular case studies 2017; (3(6)) doi:10.1101/mcs.a002055.

Survey of Nutrition Management Practices in Centers for Pediatric Intestinal Rehabilitation.

Nucci AM, Ellsworth K, Michalski A, et al.

Nutrition in clinical practice : official publication of the American Society for Parenteral and Enteral Nutrition 2018; (33(4)):528-538 doi:10.1177/0884533617719670.

Intestinal Rehabilitation Programs in the Management of Pediatric Intestinal Failure and Short Bowel Syndrome.

Merritt RJ, Cohran V, Raphael BP, et al.

Journal of pediatric gastroenterology and nutrition 2017; (65(5)):588-596 doi:10.1097/MPG.0000000000001722.

Home Parenteral Nutrition: Vascular Access and Related Complications.

Dibb M, Lal S

Nutrition in clinical practice : official publication of the American Society for Parenteral and Enteral Nutrition 2017; (32(6)):769-776 doi:10.1177/0884533617734788.

Long-term outcomes of pediatric intestinal failure.

Fullerton BS, Hong CR, Jaksic T

Seminars in pediatric surgery 2017; (26(5)):328-335 doi:10.1053/j.sempedsurg.2017.09.006.

Kocuria kristinae-caused sepsis in an infant with congenital tufting enteropathy.

Aydin M, Ganschow R, Jankofsky M

The Turkish journal of pediatrics 2017; (59(1)):93-96.

Reversal of Intestinal Failure in Children With Tufting Enteropathy Supported With Parenteral Nutrition at Home.

Ashworth I, Wilson A, Aquilina S, et al.

Journal of pediatric gastroenterology and nutrition 2018; (66(6)):967-971 doi:10.1097/MPG.0000000000001894.

Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys).

Hirabayashi KE, Moore AT, Mendelsohn BA, et al.

American journal of medical genetics. Part A 2018; (176(4)):997-1000 doi:10.1002/ajmg.a.38637.

Pediatric Intestinal Failure: The Key Outcomes for the First 100 Patients Treated in a National Tertiary Referral Center During 1984-2017.

Merras-Salmio L, Mutanen A, Ylinen E, et al.

JPEN. Journal of parenteral and enteral nutrition 2018; (42(8)):1304-1313 doi:10.1002/jpen.1164.

Children With Intestinal Failure Undergoing Intestinal Rehabilitation Are at Risk for Essential Fatty Acid Deficiency.

Gunnar R, Lumia M, Pakarinen M, Merras-Salmio L

JPEN. Journal of parenteral and enteral nutrition 2018; (42(7)):1203-1210 doi:10.1002/jpen.1152.

Enhanced central venous catheter bundle for pediatric parenteral-dependent intestinal failure.

Ormsby JA, Bukoye B, Lajoie D, et al.

American journal of infection control 2018; (46(11)):1284-1289 doi:10.1016/j.ajic.2018.04.209.

Enteroids expressing a disease-associated mutant of EpCAM are a model for congenital tufting enteropathy.

Das B, Okamoto K, Rabalais J, et al.

American journal of physiology. Gastrointestinal and liver physiology 2019; (317(5)):G580-G591 doi:10.1152/ajpgi.00098.2019.

A Retrospective Analysis of the Effect of Combination of Pure Fish Oil with Third Generation Lipid Emulsion on Liver Function in Children on Long-Term Parenteral Nutrition.

Danko M, Żyła-Pawlak A, Książyk J, et al.

Nutrients 2019; (11(10)) doi:10.3390/nu11102495.

Matriptase drives early-onset intestinal failure in a mouse model of congenital tufting enteropathy.

Szabo R, Callies LK, Bugge TH

Development (Cambridge, England) 2019; (146(22)) doi:10.1242/dev.183392.

New Insights Into the Indications for Intestinal Transplantation: Consensus in the Year 2019.

Kaufman SS, Avitzur Y, Beath SV, et al.

Transplantation 2020; (104(5)):937-946 doi:10.1097/TP.0000000000003065.

A case of severe malnutrition infant with neonatal onset intractable diarrhea.

Fang Y, Luo Y, Yu J, Chen J

BMC pediatrics 2020; (20(1)):133 doi:10.1186/s12887-020-1999-0.

Outcome associated with EPCAM founder mutation c.499dup in Qatar.

Hassan K, Sher G, Hamid E, et al.

European journal of medical genetics 2020; (63(10)):104023 doi:10.1016/j.ejmg.2020.104023.

National Survey of Pediatric Intestinal Rehabilitation Programs in the United States.

Park CJ, Shaughnessy MP, Zhang L, et al.

JPEN. Journal of parenteral and enteral nutrition 2021; (45(6)):1249-1258 doi:10.1002/jpen.1997.

Bone mineral density and vitamin D in paediatric intestinal failure patients receiving home parenteral nutrition.

Kvammen JA, Thomassen RA, Kjeserud CN, et al.

Clinical nutrition ESPEN 2020; (39()):234-241 doi:10.1016/j.clnesp.2020.06.006.

Tufting Enteropathy: A Review of Clinical and Histological Presentation, Etiology, Management, and Outcome.

Cai C, Chen Y, Chen X, Ji F

Gastroenterology research and practice 2020; (2020()):5608069 doi:10.1155/2020/5608069.

New mutation in EPCAM for congenital tufting enteropathy: A case report.

Zhou YQ, Wu GS, Kong YM, et al.

World journal of clinical cases 2020; (8(20)):4975-4980 doi:10.12998/wjcc.v8.i20.4975.

Current strategies for managing intestinal failure-associated liver disease.

Secor JD, Yu L, Tsikis S, et al.

Expert opinion on drug safety 2021; (20(3)):307-320 doi:10.1080/14740338.2021.1867099.

Congenital Tufting Enteropathy: Biology, Pathogenesis and Mechanisms.

Das B, Sivagnanam M

Journal of clinical medicine 2020; (10(1)) doi:10.3390/jcm10010019.

EpCAM (CD326) Regulates Intestinal Epithelial Integrity and Stem Cells via Rho-Associated Kinase.

Ouchi T, Morimura S, Dow LE, et al.

Cells 2021; (10(2)) doi:10.3390/cells10020256.

NGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal Disorders.

Esposito MV, Comegna M, Cernera G, et al.

Diagnostics (Basel, Switzerland) 2021; (11(2)) doi:10.3390/diagnostics11020262.

Liver Pathology, Including MOC31 Immunohistochemistry, in Congenital Tufting Enteropathy.

Chen S, Goldsmith JD, Fawaz R, et al.

The American journal of surgical pathology 2021; (45(8)):1091-1097 doi:10.1097/PAS.0000000000001710.

Aberrant Epithelial Differentiation Contributes to Pathogenesis in a Murine Model of Congenital Tufting Enteropathy.

Das B, Okamoto K, Rabalais J, et al.

Cellular and molecular gastroenterology and hepatology 2021; (12(4)):1353-1371 doi:10.1016/j.jcmgh.2021.06.015.

Three Novel EPCAM Variants Causing Tufting Enteropathy in Three Families.

Ayyıldız Civan H, Leitner C, Östreicher I, et al.

Children (Basel, Switzerland) 2021; (8(6)) doi:10.3390/children8060503.

NeoCHIRP: A model for intestinal rehabilitation in the neonatal intensive care unit.

Casey LM, Strauss J, Dhaliwal KK, et al.

Nutrition in clinical practice : official publication of the American Society for Parenteral and Enteral Nutrition 2021; (36(6)):1320-1327 doi:10.1002/ncp.10734.

International Latin American Survey on Pediatric Intestinal Failure Team.

Spolidoro JVN, Souza MC, Goldani HAS, et al.

Nutrients 2021; (13(8)) doi:10.3390/nu13082754.

Critical diagnoses in paediatric gastrointestinal diseases.

Montoya-Cerrillo D, Bernieh A, Saad AG

Pathology 2022; (54(2)):195-206 doi:10.1016/j.pathol.2021.09.023.

Intestinal failure-associated liver disease in the neonatal ICU: what we know and where we're going.

Khalaf RT, Ford SL

Current opinion in pediatrics 2022; (34(2)):184-190 doi:10.1097/MOP.0000000000001105.

Metabolic Bone Disease in Children with Intestinal Failure and Long-Term Parenteral Nutrition: A Systematic Review.

Gatti S, Quattrini S, Palpacelli A, et al.

Nutrients 2022; (14(5)) doi:10.3390/nu14050995.

Histopathological liver steatosis linked with high parenteral glucose and amino acid supply in infants with short bowel syndrome.

Gunnar R, Mutanen A, Merras-Salmio L, Pakarinen MP

JPEN. Journal of parenteral and enteral nutrition 2023; (47(1)):41-50 doi:10.1002/jpen.2416.

[A Case of Congenital Tufting Enteropathy with EpCAM Gene Complex Heterozygous Mutation (c.491+1G>A; c.352_353ins CACC)].

Yang M, Xie YM, Zhang HY

Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition 2022; (53(3)):493-496 doi:10.12182/20220560109.

Carrying the Burden: Informal Care Requirements by Caregivers of Children with Intestinal Failure Receiving Home Parenteral Nutrition.

Belza C, Ungar WJ, Avitzur Y, et al.

The Journal of pediatrics 2022; (250()):75-82.e3 doi:10.1016/j.jpeds.2022.05.049.

Stress, anxiety, depression, and health-related quality of life in caregivers of children with intestinal failure receiving parenteral nutrition: A cross-sectional survey study.

Belza C, Avitzur Y, Ungar WJ, et al.

JPEN. Journal of parenteral and enteral nutrition 2023; (47(3)):342-353 doi:10.1002/jpen.2461.

Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review.

Güvenoğlu M, Şimşek-Kiper PÖ, Koşukcu C, et al.

Pediatric gastroenterology, hepatology & nutrition 2022; (25(6)):441-452 doi:10.5223/pghn.2022.25.6.441.

Long-Term Follow-Up of Tufting Enteropathy Caused by EPCAM Mutation p.Asp253Asn and Absent EPCAM Expression.

Ozler O, Brunner-Véber A, Fatih P, et al.

JPGN reports 2021; (2(1)):e029 doi:10.1097/PG9.0000000000000029.

Age-related trajectory of bone density in children with intestinal failure: A longitudinal retrospective cohort study.

Ali F, Cole CR, Hornung L, et al.

JPEN. Journal of parenteral and enteral nutrition 2023; (47(6)):736-745 doi:10.1002/jpen.2525.

Pediatric Intestinal Transplantation Management and Outcomes.

McNelis K, Rogers ME, Kocoshis S

NeoReviews 2023; (24(7)):e431-e439 doi:10.1542/neo.24-6-e431.

Tufting enteropathy: a rare anatomical cause of small bowel diarrhoea in infants with mild or no villous abnormality.

Das P, Malik R, Kaul S, Makharia GK

Gastroenterology and hepatology from bed to bench 2023; (16(2)):225-229 doi:10.22037/ghfbb.v16i1.2731.

Causes and Outcome of Central Venous Catheter Repair in Children with Intestinal Failure on Home Parenteral Nutrition.

Zaidi Z, Littlechild H, Hill S, Köglmeier J

Journal of pediatric gastroenterology and nutrition 2023; (77(6)):796-800 doi:10.1097/MPG.0000000000003946.

Risk factors for catheter-related bloodstream infections associated with home parental nutrition in children with intestinal failure: A prospective cohort study.

Puoti MG, D'Eusebio C, Littlechild H, et al.

Clinical nutrition (Edinburgh, Scotland) 2023; (42(11)):2241-2248 doi:10.1016/j.clnu.2023.09.007.

Biallelic variants of the first Kunitz domain of SPINT2 cause a non-syndromic form of congenital diarrhea and tufting enteropathy.

Al Rawahi Y, Al Sunaidi O, Al-Masqari M, et al.

American journal of medical genetics. Part A 2024; (194(3)):e63474 doi:10.1002/ajmg.a.63474.

Approach to Congenital Diarrhea and Enteropathies (CODEs).

Kijmassuwan T, Balouch F

Indian journal of pediatrics 2024; (91(6)):598-605 doi:10.1007/s12098-023-04929-7.

Optimizing Intravenous Access for Long-Term Parenteral Nutrition.

Hurt RT, Mohamed Elfadil O, Edakkanambeth Varayil J, et al.

Current nutrition reports 2024; (13(2)):323-330 doi:10.1007/s13668-024-00534-y.

Transition from pediatric to adult care in patients with chronic intestinal failure on home parenteral nutrition: How to do it right?

Demirok A, Benninga MA, Diamanti A, et al.

Clinical nutrition (Edinburgh, Scotland) 2024; (43(8)):1844-1851 doi:10.1016/j.clnu.2024.06.019.

When parenteral nutrition is the answer: The case of pediatric intestinal rehabilitation.

Kaenkumchorn TK, Lampone O, Huebner K, et al.

Nutrition in clinical practice : official publication of the American Society for Parenteral and Enteral Nutrition 2024; (39(5)):991-1002 doi:10.1002/ncp.11179.

Three patients with new mutations in the EPCAM variant gene for congenital tufting enteropathy and a mutation review in China: a case report.

Wang SN, Fu YJ, Lu XL, et al.

Translational pediatrics 2024; (13(8)):1486-1495 doi:10.21037/tp-24-97.

Prophylactic anticoagulation in children receiving home parenteral nutrition: An international prospective multicenter study.

Demirok A, Nagelkerke SCJ, Gouw SC, et al.

Clinical nutrition (Edinburgh, Scotland) 2025; (46()):88-95 doi:10.1016/j.clnu.2025.01.023.

Case Series of Eight Congenital Tufting Enteropathy Patients and Literature Review.

Fang Y, Luo Y, Xu L, et al.

Clinical genetics 2025; (108(1)):69-74 doi:10.1111/cge.14702.

Surveillance practices of pediatric intestinal failure patients by North American intestinal rehabilitation programs.

Belza C, Courtney-Martin G, Avitzur Y, Wales PW

Intestinal Failure (New York, N.Y.) 2025; (7()):100323 doi:10.1016/j.intf.2025.100323.

Three cases of tufting enteropathy and review of literature.

Noyan A, Gümüş E, Hızarcıoğlu Gülşen H, et al.

The Turkish journal of pediatrics 2026; (68(2)):337-344 doi:10.24953/turkjpediatr.2026.5607.

Biopsy-Proven Intestinal Failure-Associated Liver Disease in Pediatric Short Bowel Syndrome: Histopathological Findings and Clinical Outcomes.

Karakoyun M, Barut D, Kunay B, et al.

Diagnostics (Basel, Switzerland) 2026; (16(14)) doi:10.3390/diagnostics16142205.

A Rare Case of Neonatal-Onset Diarrhea Due to Congenital Tufting Enteropathy: Clinical, Histopathological, and Genetic Insights.

Rogalidou M, Dimakou K, Stefanaki K, et al.

Reports (MDPI) 2026; (9(3)) doi:10.3390/reports9030310.