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)

The aetiology of achalasia is unknown, but it has been suggested that it is congenital in origin and associated with such disorders as infantile pyloric stenosis or Hirschsprung's disease. Another reported association has been with Hodgkin's disease. A survey of 126 patients with achalasia, and their first degree relatives was undertaken to record the prevalence of infantile pyloric stenosis, Hirschsprung's disease and Hodgkin's disease. The prevalence of motor neurone disease and diabetes, which can be associated with motility disorders of the oesophagus, were also recorded as a measure of the efficiency of the questionnaire. None of the 126 patients with achalasia suffered from pyloric stenosis, Hirschsprung's disease, Hodgkin's lymphoma or motor neurone disease. There was no increased frequency of these disorders amongst first degree relatives. There appears to be no common aetiology for aganglionic bowel disease, and no obvious association between Hodgkin's disease and achalasia. Diabetes is seen with the expected frequency amongst patients with achalasia and their relatives, indicating the adequacy of the questionnaire.
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PMID:Achalasia and other diseases associated with disorders of gastrointestinal motility. 380 75

Several endoscopic dilatations of the distal esophagus had been performed on this 77 year old woman with achalasia and secondary epiphrenic diverticulum. At present, swallowing was not essentially hampered and the body weight was stable. She was admitted for general weakness and a fall. The investigations revealed a traumatic pelvic fracture, as well as microcytic hypochromic anemia and marked hypoproteinemia. Endoscopy of the upper gastrointestinal tract showed an extreme inflammatory reaction of the mucosa. It was postulated that bacterial overgrowth had spread from the esophageal diverticulum to the upper intestinal tract and induced infectious anemia and protein-loosing enteropathy. Anemia and hypoproteinemia responded well to a treatment with cotrimotazole but relapsed after discontinuation of the antibiotics.
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PMID:[Generalized weakness in pre-existing achalasia]. 932 24

Aspiration pneumonia is a common complication of myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy (MIRAGE) syndrome. However, the detailed clinical course of aspiration pneumonia in neonates and infants diagnosed with this disorder remains unclear. We report a case of a 2-yr-old girl diagnosed with MIRAGE syndrome during the early neonatal period. The patient developed 3 episodes of aspiration pneumonia until 4 mo of age, and this complication was attributed to esophageal hypoperistalsis secondary to achalasia and gastroesophageal reflux. Enteral feeding via a duodenal tube effectively prevented further episodes of aspiration pneumonia in this patient.
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PMID:MIRAGE syndrome with recurrent pneumonia probably associated with gastroesophageal reflux and achalasia: A case report. 3166 68