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Table 2 Pathology assessment of four patients with neonatal-onset watery diarrhea

From: Monogenic mutations in four cases of neonatal-onset watery diarrhea and a mutation review in East Asia

  Age (procedure) H&E staining TEM assessment
Patient 1 11 months (endoscopy) Rectum: active and chronic inflammation; cryptitis; 10 ± EOS/HPF ND
26 months (endoscopy) Colon: chronic inflammation; tufts or teardrop appearance; eosinophils and plasma cells infiltration ND
27 months (surgery) Stomach: chronic gastritis; submucosal edema, hyperemia
Jejunum: villous blunting; tufts at villus tips; lymphocyte infiltration in the epithelial layer; prominent inflammatory cell infiltration in lamina propria
Ileum: focal mucosal erosion and hyperemia; lymphocyte infiltration; tufts at villus tips
Colon: tufts or teardrop appearance; hyperemia; edema
Jejunum: focal loss of microvilli and disorganized cellular junctions;
Colon: focal loss of microvilli
31 months (endoscopy) Stomach: chronic gastritis
Ileum: chronic inflammation; tufts at villus tips
ND
34 months (surgery) Colon: mucosal hyperemia, edema, and erosion; tufts or teardrop appearance ND
40 months (surgery and endoscopy) Ileum: villous blunting or missing; tufts at villus tips; submucosal lymphoid hyperplasia
Colon: chronic mucosal inflammation; tufts or teardrop appearance; inflammatory cell infiltration in lamina propria
ND
Patient 2 43 days (endoscopy) Duodenum: villous atrophy; disorganized epithelium
Ileum: villous atrophy; crowded epithelial cells
Colon: chronic inflammation; villous atrophy
Ileum: flattened microvilli; swollen epithelial cells and slightly dilated endoplasmic reticulum; interstitial edema; infiltration of lymphocytes and plasma cells
Patient 3 4 days (surgery) Ileum: hyperemia, edema, and lymphocyte aggregates; a proliferation of submucosal fibrous tissue
Colon: hyperemia, edema, and lymphocyte aggregates; a proliferation of submucosal fibrous tissue
ND
Patient 4 71 days (endoscopy) Duodenum: hyperemia, edema, and prominent lymphocyte infiltration; villous blunting
Ileum: hyperemia, edema, and prominent lymphoid aggregates; villous blunting
Ileum: focal loss of microvilli; swollen epithelial cells; infiltration of interstitial plasma cells, lymphocytes, and eosinophils
  1. EOS eosinophil, HPF high power field, TEM transmission electronic microscopy, H&E hematoxylin–eosin, ND no data