Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0014848 (achalasia)
 2,804 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report the illness of a 32-year-old male with the syndrome of multiple endocrine neoplasia, type 2b, which comprises medullary carcinoma of the thyroid, phaeochromocytoma, oral mucosal neuromas and skeletal deformity. The patient also had evidence of ganglioneuromatosis of the alimentary tract, a finding which is held to be responsible for constipation and a number of the other gastrointestinal manifestations of the MEN, 2b. Dysphagia, which has not been previously reported in the syndrome was also present. Investigations of the oesophagus which included endoscopy, radiology and a motility study support the diagnosis of achalasia as the cause of the dysphagia.
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PMID:Colonic and oesophageal disturbance in a patient with multiple endocrine neoplasia, type 2b. 3 47

We report a 34-yr-old patient with multiple endocrine neoplasia 2B and achalasia of the cardia who was successfully treated with pneumatic dilation. The various gastrointestinal manifestations of this syndrome are discussed.
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PMID:Achalasia of the cardia and multiple endocrine neoplasia 2B. 794 87

Achalasia is a rare but important condition affecting the myenteric neurons of the esophagus. A number of studies have provided evidence for the preservation of cholinergic innervation to the esophagus in achalasia. This forms the rationale for the treatment of achalasia with botulinum toxin. Identification of nitric oxide as the primary inhibitory neurotransmitter of the gastrointestinal tract has improved our understanding of the pathophysiology of primary achalasia. Neurons containing nitric oxide are absent within the myenteric plexuses of patients with achalasia, and the experimental inhibition of nitric oxide produces a picture that manometrically mimics achalasia. Recent advances have provided insights into the genetic basis and pathogenesis of a growing number of secondary forms of achalasia. Examples of such secondary disorders include Allgrove's syndrome, autoimmune polyglandular syndrome, and multiple endocrine neoplasia type 2B.
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PMID:Pathophysiology of achalasia. 1098 Sep 49

The unusual combination of Hirschsprung's disease and Achalasia in one case treated by standard procedures led to the discussion about RET germ-line mutations and consequently to the speculation about higher risk for multiple endocrine neoplasia syndrome type 2-related tumors. Although a mutation could be excluded by sequence analysis in this case, the correlation of these specific diseases affords additive investigations to make sure that no further prophylactic procedures were necessary.
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PMID:The combination of Hirschsprung's disease and achalasia. 1575 Sep 14

A 58-year-old female with a recurrent history of upper abdominal pain and intermittent dysphagia underwent endoscopic evaluation that demonstrated an irregular and nodular esophago-gastric (EG) junction and grade I erosive esophagitis. Biopsies showed prominent intestinal metaplasia of Barrett's type without dysplasia, chronic inflammation and multiple aggregates of large cells within the mucosal lamina propria, some with spindle shaped nuclei. Immunohistochemistry stains for keratins AE-1/AE-3 were negative, while S-100 and NSE were positive. This, together with routine stains, was diagnostic for mucosal ganglioneuromatosis. The background of chronic inflammation with intestinal type metaplasia was consistent with long-term reflux esophagitis. No evidence of achalasia was seen. Biopsies of gastric antrum and fundus were unremarkable, without ganglioneural proliferation. Colonoscopy was unremarkable. No genetic syndromes were identified in the patient including familial adenomatous polyposis and multiple endocrine neoplasia type IIb (MEN IIb). Iansoprazole (Prevacid) was started by oral administration each day with partial relief of symptoms. Subsequent esophagogastroscopy repeated at 4 mo showed normal appearing EG junction. Esophageal manometry revealed a mild non-specific lower esophageal motility disorder. Mild motor dysfunction is seen with gastro-esophageal reflux disease (GERD) and we feel that the demonstration of localized ganglioneuromatosis was not likely related etiologically. In the absence of findings that might suggest neural hypertrophy, such as achalasia, the nodular mucosal irregularity seen with this instance of ganglioneuromatosis may, however, have exacerbated the patient's reflux.
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PMID:Sporadic ganglioneuromatosis of esophagogastric junction in a patient with gastro-esophageal reflux disorder and intestinal metaplasia. 1720 37

Idiopathic achalasia is an archetype esophageal motor disorder, causing significant impairment of eating ability and reducing quality of life. The pathophysiological underpinnings of this condition are loss of esophageal peristalsis and insufficient relaxation of the lower esophageal sphincter (LES). The clinical manifestations include dysphagia for both solids and liquids, regurgitation of esophageal contents, retrosternal chest pain, cough, aspiration, weight loss and heartburn. Even though idiopathic achalasia was first described more than 300 years ago, researchers are only now beginning to unravel its complex etiology and molecular pathology. The most recent findings indicate an autoimmune component, as suggested by the presence of circulating anti-myenteric plexus autoantibodies, and a genetic predisposition, as suggested by observed correlations with other well-defined genetic syndromes such as Allgrove syndrome and multiple endocrine neoplasia type 2 B syndrome. Viral agents (herpes, varicella zoster) have also been proposed as causative and promoting factors. Unfortunately, the therapeutic approaches available today do not resolve the causes of the disease, and only target the consequential changes to the involved tissues, such as destruction of the LES, rather than restoring or modifying the underlying pathology. New therapies should aim to stop the disease at early stages, thereby preventing the consequential changes from developing and inhibiting permanent damage. This review focuses on the known characteristics of idiopathic achalasia that will help promote understanding its pathogenesis and improve therapeutic management to positively impact the patient's quality of life.
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PMID:New insights into the pathophysiology of achalasia and implications for future treatment. 2767 86