Content deleted Content added
Line 47:
===Small bowel===
[[Histopathology|Microscopic examination]] of a biopsy of the small bowel in these patients shows [[villous atrophy]] with low or no [[mononuclear leucocyte|mononuclear cell]] infiltration of the [[lamina propria]] nor specific abnormalities involving the [[epithelium]]. The amount of villous atrophy does not explain the severity of the diarrhea.
Studies of enterocyte brush-border ion transporter proteins ([[sodium hydrogen exchanger]] 2, sodium hydrogen exchanger 3, [[aquaporin]] 7, [[sodium iodide symporter]] and [[hydrogen potassium adenosine triphosphatase]]) showed reduced expression or mislocalization in all patients with different profiles for each.<ref name=Hartley2010>Hartley JL, Zachos NC, Dawood B, Donowitz M, Forman J, Pollitt RJ, Morgan NV, Tee L, Gissen P, Kahr WH, Knisely AS, Watson S, Chitayat D, Booth IW, Protheroe S, Murphy S, de Vries E, Kelly DA, Maher ER (2010) Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy). Gastroenterology 138 (7) 2388-2398.e2</ref>
===Hair===
| |||