von Volkmann Hilde Løland, Nylund Kim, Tronstad Rune Rose, Hovdenak Nils, Hausken Trygve, Fiskerstrand Torunn, Gilja Odd Helge
a National Centre for Ultrasound in Gastroenterology , Haukeland University Hospital , Bergen , Norway ;
b Department of Clinical Medicine , University of Bergen , Bergen , Norway ;
Scand J Gastroenterol. 2016 Nov;51(11):1308-15. doi: 10.1080/00365521.2016.1200139. Epub 2016 Jun 24.
Familial GUCY2C diarrhoea syndrome (FGDS) is caused by an activating mutation in the GUCY2C gene encoding the receptor guanylate cyclase C in enterocytes. Activation leads to increased secretion of fluid into the intestinal lumen. Twenty percent of the patients have increased risk of Crohn's disease and intestinal obstruction (CD, 20%) and the condition resembles irritable bowel syndrome with diarrhoea. We aimed to describe fluid content, contractility, peristaltic activity and bowel wall thickness in the intestine in fasting FGDS patients, using ultrasound, with healthy volunteers serving as controls.
Twenty-three patients with FGDS and 22 healthy controls (HC) were examined with a Logiq E9 scanner in a fasting state. Bowel wall thickness was measured and fluid-filled small bowel loops were counted using three-dimensional (3D) magnetic positioning navigation. The HC ingested 500 ml PEG solution, an electrolyte balanced, non-absorbable solution, in order to investigate the contractions of the small bowel.
The fasting 23 FGDS patients had significantly higher number of fluid-filled small bowel segments compared to 22 fasting HC, p < 0.001. A high number of non-occlusive contractions in the ileum was observed, which was significant when compared to HC after ingesting PEG solution, p < 0.016. An increase in intestinal wall thickness or other signs of CD were not observed.
FGDS is characterised by multiple, fluid-filled small bowel loops with incomplete contractions and fluid stagnation in fasting state. These findings may play a role in the increased risk of bowel obstruction as well as IBS-like symptoms observed in these patients.
家族性鸟苷酸环化酶C腹泻综合征（FGDS）由肠细胞中编码鸟苷酸环化酶C受体的GUCY2C基因的激活突变引起。激活导致液体向肠腔内的分泌增加。20%的患者患克罗恩病和肠梗阻（CD，20%）的风险增加，且该病症类似于腹泻型肠易激综合征。我们旨在使用超声描述空腹FGDS患者肠道内的液体含量、收缩性、蠕动活动和肠壁厚度，以健康志愿者作为对照。
对23例FGDS患者和22名健康对照者（HC）在空腹状态下使用Logiq E9扫描仪进行检查。测量肠壁厚度，并使用三维（3D）磁定位导航计算充满液体的小肠袢数量。为了研究小肠的收缩情况，HC摄入了500毫升聚乙二醇（PEG）溶液，这是一种电解质平衡的不可吸收溶液。
与22名空腹的HC相比，23例空腹FGDS患者充满液体的小肠段数量显著更多，p < 0.001。观察到回肠中有大量非梗阻性收缩，与摄入PEG溶液后的HC相比具有显著性差异，p < 0.016。未观察到肠壁厚度增加或其他CD迹象。
FGDS的特征是在空腹状态下有多个充满液体的小肠袢，收缩不完全且有液体停滞。这些发现可能在这些患者肠梗阻风险增加以及类似肠易激综合征症状中起作用。
