Intractable diarrhea of infancy with epithelial and basement membrane abnormalities

Goulet, Olivier; Kédinger, Michèle; Brousse, Nicole; Cuenod, B.; Colomb, V.; Patey, Natacha; Potter, S. De; Jf, Mougenot; Canioni, Danielle; Cerf‐Bensussan, Nadine; Ricour, C.

doi:10.1016/s0022-3476(95)70297-0

Cited by 126 publications

(100 citation statements)

References 20 publications

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“…12 An increase in the number and length of the desmosomes between enterocytes and an abnormal distribution of α2β2 integrin have been observed in pathological studies of tufting enteropathy, 13 which suggests that changes in cell-cell adhesion play a role in the pathogenesis of tufting enteropathy. EpCAM has been identified as the gene involved in tufting enteropathy.…”

Section: Discussionmentioning

confidence: 99%

Tufting Enteropathy with EpCAM Mutations in Two Siblings

Shim

Hwang

et al. 2010

Gut Liver

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Section: Discussionmentioning

confidence: 99%

Tufting Enteropathy with EpCAM Mutations in Two Siblings

Shim

Hwang

et al. 2010

Gut Liver

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“…Abnormalities were localized mainly in the epithelium and showed a similar appearance with those described as "tufting enteropathy"by Reifen et al (4). In some infants with tufting enteropathy, abnormal laminin and heparin sulfate proteoglycan deposition on basement membrane has been reported, i.e., faint and irregular laminin deposition at the epithelial-lamina propria interface, while heparin sulfate proteoglycan appeared widened and lamellar (5). Basement membrane molecules are involved in epithelial-mesenchymal cell interactions, which are instrumental in intestinal development and differentiation (33,34).…”

Section: Discussionmentioning

confidence: 99%

“…Several chronic enteropathies that may be responsible for intractable diarrhea have been described. These include congenital microvillous atrophy or microvillous inclusion disease (3), tufting enteropathy (4), and other ultrastructural abnormalities of the enterocyte (5), and autoimmune enteropathy (6). Despite recent advances, PD still represents a daunting problem for the pediatric gastroenterologist.…”

Section: Introductionmentioning

confidence: 99%

Protracted Diarrhea: Results of the Five-year Survey in a Tertiary Hospital in Korea

2001

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The syndrome of protracted diarrhea (PD) includes several diseases with diverse etiologies. This study was conducted to characterize the spectrum of causes, clinical manifestations, and the outcomes of PD. A retrospective analysis of the clinical and pathological findings was performed on 25 patients with diarrhea starting within the first 2 yr of life and a requirement of parenteral nutrition (PN). According to the intestinal histopathology, patients were classified into four groups: immune enteropathy (12 cases), lymphangiectasia (6 cases), epithelial dysplasia (5 cases), and unclassified (2 cases). All patients with epithelial dysplasia had earlier onset of diarrhea and longer duration of PN than those in the other groups. Three patients (12%) had an evidence of a familial condition. Five patients (three with microvillous inclusion disease and two with immune enteropathy) died. Sixteen patients recovered, and three (two with primary lymphangiectasia and one with microvillous inclusion disease) still had diarrhea. One patient underwent intestinal transplantation for tufting enteropathy. In conclusion, infants with PD should be referred to specialized centers where advanced diagnostic and therapeutic facilities are available, because histological analysis is critical for the diagnosis of PD, and PN or intestinal transplantation is the only therapeutic option in a subset of cases.

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“…Ces aspects permettent de classer cette affection dans la catégorie des anomalies entérocytaires congénita-les et non dans celle des anomalies immunitaires. Des observations similaires chez 6 enfants ont été publiées [51] avec des données supplémentaires concernant des anomalies de la membrane basale (diminution de la laminine et augmentation du sulfate d'héparane), dont la nature primitive ou secondaire n'a pu, cependant, être établie. Patey et coll.…”

Section: Dysplasie éPithéliale Intestinaleunclassified

Diarrhées intraitables dues à des anomalies congénitales des entérocytes

Phillips¹

2006

Ann Nestlé [Fr]

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Contexte: Les diarrhées intraitables du nourrisson sont des affections sévères responsables d’une morbidité et d’une mortalité élevées. Ces cas demandent beaucoup de soins de la part des parents et des soignants, car il n’existe aucun traitement simple. Le petit nombre de ces patients laisse penser que seule une collaboration internationale regroupant les ressources et les sujets atteints, permettra de faire progresser la compréhension de ces affections. Des analyses régulières de la littérature dans ce domaine sont nécessaires pour faire connaître les progrès et discuter des hypothèses et critères diagnostiques. Méthodes: Le présent article est une analyse de la littérature concernant les anomalies congénitales des entérocytes. Résultats: Des diagnostics précis sont possibles dans ce groupe de maladies, et les critères en sont de plus en plus acceptés. Les cas publiés au plan mondial font apparaître des différences d’évolution clinique, certains de moindre sévérité. La morbidité et la mortalité demeurent cependant élevées. Conclusions: Un long chemin reste encore à parcourir afin de déterminer l’origine de ces troubles. La biologie moléculaire ouvre des perspectives prometteuses de détermination des anomalies génétiques de ces maladies. Il s’agit d’une priorité, car il serait ainsi possible de disposer de critères diagnostiques plus précis, de préciser les relations de ces maladies entre elles et d’apporter les informations nécessaires sur leurs mécanismes.

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Intractable diarrhea of infancy with epithelial and basement membrane abnormalities

Cited by 126 publications

References 20 publications

Tufting Enteropathy with EpCAM Mutations in Two Siblings

Tufting Enteropathy with EpCAM Mutations in Two Siblings

Protracted Diarrhea: Results of the Five-year Survey in a Tertiary Hospital in Korea

Diarrhées intraitables dues à des anomalies congénitales des entérocytes

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