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

Achalasia of the esophagus is a relatively rare problem in children, but it may be the cause of severe lung disease, growth retardation and respiratory death in young infants. Surgical esophago-cardio-myotomy remains the treatment of choice, and this article details 25 years of experience with 35 children with achalasia of the esophagus and their late post-operative follow-up. The occurrence of achalasia in the first six months of life, the existence of a familial factor, the prevalent possible association with genetic diseases (familial dysautonomia, glucocorticoid insufficiency, Rozycki syndrome) suggest that achalasia in childhood may in certain cases represent a congenital problem, somewhat different from the adult form, which is considered to be an acquired disease.
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PMID:Achalasia of the esophagus in childhood. Surgical treatment in 35 cases, with special reference to familial cases and glucocorticoid deficiency association. 177 80

Achalasia of the esophagus is a relatively rare problem in children, but it can result in severe lung disease, growth retardation, or respiratory death in young infants. Surgical esophagocardiomyotomy remains the treatment of choice, and this report details a 25-year experience with 35 children with achalasia of the esophagus and their long-term postoperative follow-up. Occurrence of achalasia in the first 6 months of life, the existence of familial cases, and the association of achalasia with genetic diseases (familial dysautonomia, glucocorticoid insufficiency, Rozycki syndrome) suggest that achalasia in childhood may in certain cases represent a congenital problem.
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PMID:Achalasia of the esophagus in childhood: surgical treatment in 35 cases with special reference to familial cases and glucocorticoid deficiency association. 280 52

Dilatation and oesophageal body aperistalsis in achalasia can lead to stasis which in turn can induce repeated microaspiration. It is therefore conceivable that patients with achalasia may also have abnormalities in lungs secondary to repeated episodes of microaspiration. There is a lack of systematic study on involvement of lungs in patients with achalasia. Thirty patients with achalasia underwent pulmonary function tests (spirometry, and carbon mono-oxide diffusion capacity) and high resolution computerized tomography (HRCT) of the chest. The mean age of patients and mean duration of disease were 33.5 +/- 10.9 years and 28.1 +/- 27.3 months respectively. Regurgitation was present in 22 (73.3%) of them. Respiratory symptoms in them were dry cough in 17 (56.6%), and chest pain in 18 (60%). The oesophagus was dilated in 26 (86.6%) and 13 (43.3%) had residue in oesophagus. Sixteen (53.3%) patients had either anatomical changes as seen on HRCT or functional changes as observed on pulmonary function tests. Of those with functional abnormalities, five (16.6%) and one (3.3%) had restrictive and obstructive airways disease respectively. While evidence of tracheo-bronchial compression by dilated oesophagus was present in eight (26.6%), 10 (33.3%) patients had parenchymal lung disease [nodular opacities in five (16.6%), ground glass appearance six (20%), patchy pulmonary fibrosis five (16.6%), air trapping two (6.6%), consolidation and bronchiectasis one (3.3%) each]. There was a significant association between presence of regurgitation and dilatation of oesophagus (P = 0.032). More than half (53.3%) of patients with achalasia have structural and/or functional abnormalities in lungs.
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PMID:Structural and functional abnormalities in lungs in patients with achalasia. 1922 59

Gastroesophageal disorders such as achalasia can be associated with pulmonary disorders because of non-tuberculous mycobacteria, frequently masquerading as aspiration pneumonia. The optimal therapeutic regimen and duration of treatment for non-tuberculous mycobacteria lung disease is not well established. Here, we present an 11 year old male patient with Mycobacterium abscessus pulmonary disease and underlying triple A syndrome, who was successfully treated with 2 months of imipenem, amikacin, clarithromycin and continued for long-term antibiotic treatment.
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PMID:Pulmonary Mycobacterium abscessus Infection in a Patient with Triple A Syndrome. 2708 Apr 71