Protracted diarrhoea of infancy: evidence in support of an autoimmune variant.

Mirakian, Rita; Richardson, Anne; Milla, Peter J.; Walker-Smith, J A; Unsworth, Joseph; Savage, M O; Bottazzo, G. F.

doi:10.1136/bmj.293.6555.1132

Cited by 142 publications

(81 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In 1982, Walker-Smith et al (6) first described circulating autoantibodies against the gut epithelium in an 18-month-old boy with chronic diarrhea, failure to thrive, and small intestinal enteropathy. Since then, several additional cases of autoimmune enteropathy have been reported (25)(26)(27)(28). Although we could not finely make the diagnosis of autoimmune enteropathy because of the lack of diagnostic modalities including gut epithelial cell autoantibodies (6,25,(28)(29)(30)(31)(32), at least some of the patients in this study might have had autoimmune enteropathy because all cases in the epithelial dysplasia group were unresponsive to elemental milk, dependent on PN, and had considerable villous atrophy.…”

Section: Discussionmentioning

confidence: 87%

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

2001

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionmentioning

confidence: 87%

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

2001

View full text Add to dashboard Cite

show abstract

“…To date, less than 50 cases of pediatric autoimmune enteropathy have been reported, but largely limited to case reports and small case series. 9,[11][12][13][14][15][16][17][18][19] To the best of our knowledge, the study herein represents the largest clinicopathologic series of pediatric autoimmune enteropathy. Analysis of these patients and those published previously suggests that pediatric autoimmune enteropathy represents a heterogenous group of disorders with protean clinical and pathologic findings rather than a discrete entity.…”

Section: Discussionmentioning

confidence: 99%

Pediatric autoimmune enteropathy: an entity frequently associated with immunodeficiency disorders

et al. 2014

View full text Add to dashboard Cite

The term pediatric autoimmune enteropathy was originally applied to a form of intractable diarrhea seen in children under the age of 6 months and characterized by male predominance, concurrent autoimmuneassociated disorders, circulating gut autoantibodies, a lack of severe immunodeficiency and small bowel atrophy with prominent crypt apoptosis. However, recent studies have cast doubt over the specific clinicopathologic findings associated with this entity. We, therefore, collected 178 gastrointestinal biopsies from 14 patients and examined their clinical, serologic and pathologic findings. Patients at presentation ranged in age from birth to 15.9 years (median, 5.5 months; mean, 4.1 years) and included six males and eight females. All children suffered from chronic watery diarrhea and malnutrition. Concomitant-associated disorders were noted in 11 (79%) cases and included 10 (71%) with an immunodeficiency disorder and/or another autoimmunerelated disease. Eleven patients (79%) were positive for anti-enterocyte antibodies. The salient findings of autoimmune enteropathy were most prominent in the small intestines and the majority (79%) of patients demonstrated villous blunting, crypt hyperplasia, mononuclear cell inflammatory expansion of the lamina propria and crypt apoptosis. The remaining (21%) patients showed marked intraepithelial lymphocytosis reminiscent of celiac disease. Further, acute cryptitis and crypt abscesses were seen in seven (50%) patients obscuring the presence of apoptosis. The absence of Paneth cells, goblet cells or both was noted in seven (50%) patients. Follow-up information was available for all patients with 13 (93%) receiving immunosuppressant therapy and demonstrating partial-to-complete response. In total, three patients died from continued diarrhea and sepsis with one decedent before treatment could be initiated. In summary, autoimmune enteropathy in children is a heterogenous disease with protean clinical and pathologic findings. Although anti-enterocyte antibodies were identified in the majority of the cases, their presence was variable and insensitive. In addition, pediatric autoimmune enteropathy was frequently encountered in the setting of immunodeficiency disorders.

show abstract

“…Cette infi ltration n'est pas observée au cours de diarrhées prolongées relevant d'une autre cause et affectant des nourrissons chez lesquels il n'existe pas de signes d'activation immunitaire en d'autres sites que l'intestin grêle [14] . 9 une diarrhée chronique inexpliquée, des anticorps antientérocytes ont été détectés chez 14 (56%) sujets, alors que des résultats positifs n'étaient observés que chez 3 patients sur 53 (5%) atteints d'une maladie infl ammatoire chronique intestinale, 0 sur 10 présentant une maladie coeliaque, et chez aucun enfant sur 50 présentant d'autres affections extradigestives [16] . L'anticorps n'est pas spécifi que d'un épitope des entérocytes humains, car les auto-anticorps se lient également aux cellules épithé-liales de l'intestin grêle chez le rat, la souris et le cobaye.…”

Section: Observations Anatomopathologiquesunclassified