Intractable Diarrhoea due to Congenital Enterocyte Defects

Abstract

Background: Intractable diarrhoea of infancy represents a severe problem with a high degree of morbidity and mortality. These cases demand dedicated care from both parents and medical staff as there are no easy remedies. The rarity of patients indicates that progress in understanding these disorders requires concerted international efforts to pool resources and patients. Regular reviews of publications in the field are required to disseminate advances and to air hypotheses and diagnostic criteria. Methods: This is a review of current and previous literature on congenital enterocyte defects. Results: Discrete diagnoses are possible within this syndrome, and diagnostic criteria are becoming accepted. Cases are being reported on a world-wide basis, and differences in clinical course are becoming apparent with amelioration of severity in some instances. However, a high level of morbidity and mortality remains. Conclusions: There is still a long way to go in determining the underlying basis of the disorders. However, the promise of determining the genetic basis of the diseases is becoming a reality as molecular genetic analyses are performed. This is a priority as it should afford clearer diagnostic criteria, clarify disease relationships and give much need pathogenic information.

Intractable Diarrhea of Infancy

“…In 1995 Guarino et al indicated that regardless of etiology and age, patients with severe diarrhea who usually need PN should be grouped under ''severe and protracted diarrhea'' (3). After 2000, authors focused on enteropathies because of primary enterocyte abnormalities and immune-mediated disorders (IMD), but some of them decided to investigate anomalous presentations of common etiologies first (10,11). The age at onset of diarrhea of patients varied in studies of children up to 1 or 2 years old (3,4,9).…”