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

Abstract

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.

Tufting Enteropathy with EpCAM Mutations in Two Siblings

“…Intestinal transplantation has become a feasible treatment for intestinal failure, with improving results over the past decade. Three patients with tufting enteropathy, including one Korean, [4][5][6] have undergone small bowel transplantation. A successful pregnancy outcome was reported in a 27-year-old patient with tufting enteropathy.…”

“…[4][5][6] Since tufting enteropathy was first described in 1994, 7 several cases including a Korean infant have been reported. 6,[8][9][10] The prevalence of tufting enteropathy is estimated at around 1/50,000-100,000 live births in Western Europe. 2 Recently, mutations in the epithelial cell adhesion molecule (EpCAM) gene have been identified as responsible for tufting enteropathy.…”

Lats kinase is involved in the intestinal apical membrane integrity in the nematodeCaenorhabditis elegans

“…In addition, the fact that these patients die before 20 months of age is analogous to the L1 to L2 larval arrest phenotype of wts-1 (Ameen and Salas, 2000;Beck et al, 2001). Interestingly, defects in protein trafficking are thought to be the major pathogenic factor underlying MVID.…”

Microvillous Inclusion Disease—An Ultrastructural Diagnosis: With a Review of the Literature

“…A small bowel biopsy is essential for the diagnosis. An alert pathologist can suspect this disorder in the correct clinical milieu with just light microscopy, but ultrastructural examination is crucial for a definitive diagnosis [11,25,26] and to exclude all other diseases [27,28].…”