Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C1510475 (diverticular disease)
 2,138 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Alimentary tract manifestations were found in all of 17 patients with multiple endocrine neoplasia, type 2b. The manifestations are important because (1) they were chronic, (2) they were severe and led to abdominal operation in 5 patients, (3) they antedated detection of the endocrine neoplasms in the syndrome in 16 patients (94%), and (4) they provided clinical clues that stimulated search for thyroidal C-cell and adrenal medullary disease in 6 patients. The alimentary tract manifestations were diverse: symptoms included constipation, diarrhea, difficulty with feeding, projectile vomiting, crampy abdominal pain, and loud borborygmi; findings included thickened lips, nodules on the anterior third of the tongue, abdominal distention, visible peristaltic waves, and roentgenographic evidence of megacolon or diverticulosis of the colon or of dilatation of the small intestine and stomach. Initial misinterpretation or failure to realize the significance of one or more of these alimentary tract manifestations led to suspicion of aganglionic megacolon (three patients), malabsorption syndrome (two patients), and tracheal ring (one patient).
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PMID:Alimentary tract manifestations of multiple endocrine neoplasia, type 2b. 89 96

Although the syndrome of multiple endocrine neoplasia, type 2b, is known to comprise mucosal ganglioneuromatosis, medullary thyroid carcinoma, pheochromocytoma and skeletal anomalies, we wish to document the importance of the alimentary-tract components. In nine patients with this syndrome, we found diffuse ganglioneurmatosis extending from the lips to the rectum. Alimentary symptoms, constipation or diarrhea or both were present in six of these patients. Similar symptoms were present in six of seven other affected patients from whom alimentary-tract tissue was not obtained. Five of the 16 patients had megacolon, which led to operation in four, and a sixth patient had colectomy for diverticulitis complicating diffuse diverticulosis. The alimentary manifestations warrant greater emphasis, not only because they were prominent in the patients whom we studied but also because in 14, these manifestations were present before the endocrine neoplasms were detected.
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PMID:Alimentary-tract ganglioneuromatosis. A major component of the syndrome of multiple endocrine neoplasia, type 2b. 98 61