BACKGROUND We recently reported on a hereditary enteropathy associated with a gene encoding a prostaglandin transporter and referred to as chronic enteropathy associated with SLCO2 A1 gene(CEAS).Crohn's disease(CD...BACKGROUND We recently reported on a hereditary enteropathy associated with a gene encoding a prostaglandin transporter and referred to as chronic enteropathy associated with SLCO2 A1 gene(CEAS).Crohn's disease(CD)is a major differential diagnosis of CEAS,because these diseases share some clinical features.Therefore,there is a need to develop a convenient screening test to distinguish CEAS from CD.AIM To examine whether prostaglandin E major urinary metabolites(PGE-MUM)can serve as a biomarker to distinguish CEAS from CD.METHODS This was a transactional study of 20 patients with CEAS and 98 patients with CD.CEAS was diagnosed by the confirmation of homozygous or compound heterozygous mutation of SLCO2 A1.We measured the concentration of PGEMUM in spot urine by radioimmunoassay,and the concentration was compared between the two groups of patients.We also determined the optimal cut-off value of PGE-MUM to distinguish CEAS from CD by receiver operating characteristic(ROC)curve analysis.RESULTS Twenty Japanese patients with CEAS and 98 patients with CD were enrolled.PGE-MUM concentration in patients with CEAS was significantly higher than that in patients with CD(median 102.7 vs 27.9μg/g×Cre,P<0.0001).One log unit increase in PGE-MUM contributed to 7.3 increase in the likelihood for the diagnosis of CEAS[95%confidence interval(CI)3.2-16.7].A logistic regression analysis revealed that the association was significant even after adjusting confounding factors(adjusted odds ratio 29.6,95%CI 4.7-185.7).ROC curve analysis revealed the optimal PGE-MUM cut-off value for the distinction of CEAS from CD to be 48.9μg/g×Cre with 95.0%sensitivity and 79.6%specificity.CONCLUSION PGE-MUM measurement is a convenient,non-invasive and useful test for the distinction of CEAS from CD.展开更多
The widespread use of capsule endoscopy and balloonassisted endoscopy has provided easy access for detailed mucosal assessment of the small intestine. However, the diagnosis of rare small bowel diseases, such as crypt...The widespread use of capsule endoscopy and balloonassisted endoscopy has provided easy access for detailed mucosal assessment of the small intestine. However, the diagnosis of rare small bowel diseases, such as cryptogenic multifocal ulcerous stenosing enteritis(CMUSE), remains difficult because clinical and morphological features of these diseases are obscure even for gastroenterologists. In an issue of this journal in 2017, Hwang et al reviewed and summarized clinical and radiographic features of 20 patients with an established diagnosis of CMUSE. Recently, recessive mutations in the PLA2G4A and SLCO2A1 genes have been shown to cause small intestinal diseases. The small bowel ulcers in each disease mimic those in the other and furthermore those found in nonsteroidal anti-inflammatory drug-induced enteropathy. These recent and novel findings suggest that a clinical diagnosis exclusively based on the characteristics of small bowel lesions is possibly imprecise. Genetic analyses seem to be inevitable for the diagnosis of rare small bowel disorders such as CMUSE.展开更多
基金Supported by the Practical Research Project for Rare/Intractable Diseases from the Japan Agency for Medical Research and Development(AMED),No.15ek0109053h0002 to Matsumoto Tby grants from the Japan Society for the Promotion of Science(JSPS)KAKENHI,No.25460953,to Umeno J,Esaki M,and Matsumoto T
文摘BACKGROUND We recently reported on a hereditary enteropathy associated with a gene encoding a prostaglandin transporter and referred to as chronic enteropathy associated with SLCO2 A1 gene(CEAS).Crohn's disease(CD)is a major differential diagnosis of CEAS,because these diseases share some clinical features.Therefore,there is a need to develop a convenient screening test to distinguish CEAS from CD.AIM To examine whether prostaglandin E major urinary metabolites(PGE-MUM)can serve as a biomarker to distinguish CEAS from CD.METHODS This was a transactional study of 20 patients with CEAS and 98 patients with CD.CEAS was diagnosed by the confirmation of homozygous or compound heterozygous mutation of SLCO2 A1.We measured the concentration of PGEMUM in spot urine by radioimmunoassay,and the concentration was compared between the two groups of patients.We also determined the optimal cut-off value of PGE-MUM to distinguish CEAS from CD by receiver operating characteristic(ROC)curve analysis.RESULTS Twenty Japanese patients with CEAS and 98 patients with CD were enrolled.PGE-MUM concentration in patients with CEAS was significantly higher than that in patients with CD(median 102.7 vs 27.9μg/g×Cre,P<0.0001).One log unit increase in PGE-MUM contributed to 7.3 increase in the likelihood for the diagnosis of CEAS[95%confidence interval(CI)3.2-16.7].A logistic regression analysis revealed that the association was significant even after adjusting confounding factors(adjusted odds ratio 29.6,95%CI 4.7-185.7).ROC curve analysis revealed the optimal PGE-MUM cut-off value for the distinction of CEAS from CD to be 48.9μg/g×Cre with 95.0%sensitivity and 79.6%specificity.CONCLUSION PGE-MUM measurement is a convenient,non-invasive and useful test for the distinction of CEAS from CD.
基金Supported by the Practical Research Project for Rare/Intractable Diseases from Japan Agency for Medical Research and Development(AMED),No.15ek0109053h0002the Japan Society for the Promotion of Science(JSPS)KAKENHI,No.25460953
文摘The widespread use of capsule endoscopy and balloonassisted endoscopy has provided easy access for detailed mucosal assessment of the small intestine. However, the diagnosis of rare small bowel diseases, such as cryptogenic multifocal ulcerous stenosing enteritis(CMUSE), remains difficult because clinical and morphological features of these diseases are obscure even for gastroenterologists. In an issue of this journal in 2017, Hwang et al reviewed and summarized clinical and radiographic features of 20 patients with an established diagnosis of CMUSE. Recently, recessive mutations in the PLA2G4A and SLCO2A1 genes have been shown to cause small intestinal diseases. The small bowel ulcers in each disease mimic those in the other and furthermore those found in nonsteroidal anti-inflammatory drug-induced enteropathy. These recent and novel findings suggest that a clinical diagnosis exclusively based on the characteristics of small bowel lesions is possibly imprecise. Genetic analyses seem to be inevitable for the diagnosis of rare small bowel disorders such as CMUSE.
