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 Dor-Gavriliu procedure was utilized in six children with achalasia of the cardia from 1983 to 1991. Four boys and two girls (mean age, 10.1 years; range, 3 months to 16 years) presented with symptoms of weight loss (83%), emesis (83%), dysphagia (67%), recurrent respiratory infections (67%), and nocturnal regurgitation (33%). The diagnosis of achalasia was established by barium swallow in all patients; esophageal manometry was used in four patients to confirm the diagnosis. Follow-up ranged from 10 months to 8 years (mean, 3.5 years). Four neurologically normal patients had excellent results with complete resolution of their preoperative symptoms. Two neurologically impaired children, both afflicted with Down's syndrome, had less than excellent results. One moderately impaired child had a good result (required three postoperative bougie dilations over 8 years without demonstration of gastroesophageal reflux); the second, more severely impaired child, had only a fair result (persistent failure to thrive with the development of grade II gastroesophageal reflux). The Dor-Gavriliu procedure uses a transabdominal, anterior esophageal myotomy with incorporation of an effective, nonobstructing, antireflux mechanism that should prevent myotomy reapposition.
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PMID:Surgery for achalasia of the cardia in children: the Dor-Gavriliu procedure. 147 2

Gastrointestinal disorders, including motor disorders of the esophagus, occur more frequently in patients with Down's syndrome than in the general population. We recently diagnosed achalasia in a man with Down's syndrome, an association reported only once before. Of the 643 patients with achalasia treated at our institution over a 30-year period (1962-1992), a total of three had Down's syndrome. We report their clinical, radiological, and manometric findings. Achalasia may be underdiagnosed in patients with Down's syndrome because their intellectual impairment may interfere with their ability to report symptoms adequately. All three patients responded well to conventional treatment.
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PMID:Achalasia in Down's syndrome. 796 53

Although most children who have Hirschsprung's disease have an excellent result after pull-through surgery, some experience persistent constipation caused by "internal sphincter achalasia." Anal myectomy has been advocated for this problem, but it results in permanent injury to the sphincter and is not universally effective. Botulinum toxin has been safely used to selectively and reversibly weaken a variety of voluntary muscles and sphincters in both adults and children. Injection of botulinum toxin into the internal anal sphincter (IAS) should theoretically produce the same functional result as anal myectomy without permanent sphincter injury. Four children aged 4 to 8 years presented with persistent constipation after a pull-through procedure for Hirschsprung's disease. Two had associated encopresis, both of whom had previous myectomies. The authors performed four-quadrant intrasphincteric botulinum toxin injection (total dose, 15 U). Resting IAS pressure decreased in all children 4 to 8 weeks after injection. Patients have been followed up for 7 to 9 months. One child (with Down's syndrome) remained symptomatically unchanged. The other three families reported significant improvement in bowel function in their children. In two of these, there was a return of symptoms 6 months after injection; one child underwent reinjection with good results. Postinjection incontinence occurred in three children, but resolved after several weeks in the one who did not have encopresis before botulinum toxin injection. These preliminary results suggest that botulinum toxin may represent a less invasive alternative to anal myectomy for children who have severe constipation after surgery for Hirschsprung's disease. If myectomy is contemplated, botulinum toxin may also be useful as a means of predicting which children may benefit.
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PMID:Preliminary experience with intrasphincteric botulinum toxin for persistent constipation after pull-through for Hirschsprung's disease. 924 34

Achalasia is an uncommon esophageal motor disorder. It has been associated with other diseases such as Parkinson's disease and depressive disorders, but coincidence of achalasia and Down's syndrome is rare. We report five cases of achalasia in Down's syndrome patients seen in our institution. Two of the five cases were diagnosed at pediatric age. Respiratory symptoms and growth retardation were the main clinical manifestations in pediatric patients, whereas adult patients mainly complained of dysphagia. Taking into account the prevalence rate of both disorders, the association seems higher than that expected by chance. The possible etiopathogenic implications of this association, as well as its clinical relevance, are discussed.
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PMID:Achalasia and Down's syndrome: coincidental association or something else? 1036 43

Esophageal involvement is frequent in Down syndrome. We report a case of dysphagia in a 21-year-old patient with Down syndrome and repaired esophageal atresia. Radiology, endoscopy, and manometry showed typical features of achalasia. The patient was treated first by botulinum toxin injection and afterwards by Heller myotomy with good result. The role of motor disorders associated with esophageal atresia or with primary achalasia in this patient is discussed.
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PMID:[Dysphagia in a trisomic adult operated on for esophageal atresia: achalasia or pseudo-achalasia?]. 1042 66

Down syndrome (DS) is the most common chromosomal abnormality occurring in humans. Up to 77% of DS children have associated gastrointestinal (GI) abnormalities, which may be structural or functional in nature. Functional disturbances may, in turn, affect the outcome of corrective surgical procedures, prompting to caution. It is becoming clear that the processes affecting the enteric nervous system (ENS) in DS not only affect the micro-anatomy but also nerve function, and there is some histological evidence of ENS variations in both human and DS animal models. This suggests that developmental disorders of the ENS are probably fundamental to the functional GI disturbances encountered in patients with DS. The anomalous brain development, function and resulting intellectual impairment associated with DS appears to result from the genetic imbalance created by the trisomy of chromosome 21. The possible links between the brain, GI and ENS involvement are not as yet entirely clear. Neurotropic factors affecting brain development during embryogenesis are probably interlinked with ENS development, but the precise mechanism of how this occurs has yet to be established. This study explores what is known about the ENS dysfunction in DS and reviews the possible importance of chromosome 21 located and other genes in its etiology. Functional motor disturbances of the esophagus and colon are not uncommon and may be congenital or acquired in nature. The most prominent of these include esophageal dysmotility syndromes (e.g. achalasia, gastroesophageal reflux, dysphagia) as well as a higher incidence of chronic constipation and Hirschsprung's disease (HSCR) (2-15%) occurring in association with DS. Chromosome 21 itself is thought to be the site of a modifier gene for HSCR. Recently identified candidate genetic mechanisms provide unique insights into the genetic background of the neurological and cognitive disorders associated with DS. Although the role of the triplicated chromosome 21 and genetic dosage remain important, the additional role of other chromosome 21 genes in the etiology of ENS developmental anomalies remains undetermined and requires ongoing research.
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PMID:Down syndrome and the enteric nervous system. 1863 23

The association between Down syndrome and gastrointestinal anomalies such as duodenal and esophageal atresia, tracheoesophageal fistulas, and Hirschsprung's disease is well documented. More recently, an association between Down syndrome and achalasia was reported. In this report, we describe a 48-year-old woman with a history of Down syndrome who presented with dysphagia. Work-up of the dysphagia showed not only achalasia but also a duodenal duplication. To our knowledge, there have been no reports of Down syndrome associated with duodenal duplication. Whether this finding is simply a coincidence or whether duodenal duplication is associated with Down syndrome will need to be determined with future studies.
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PMID:Concurrent findings of achalasia and duodenal duplication in a Down syndrome patient. 1918 12

Achalasia cardia is one of the common causes of motor dysphagia. Though the disease was first described more than 300 years ago, exact pathogenesis of this condition still remains enigmatic. Pathophysiologically, achalasia cardia is caused by loss of inhibitory ganglion in the myenteric plexus of the esophagus. In the initial stage, degeneration of inhibitory nerves in the esophagus results in unopposed action of excitatory neurotransmitters such as acetylcholine, resulting in high amplitude non-peristaltic contractions (vigorous achalasia); progressive loss of cholinergic neurons over time results in dilation and low amplitude simultaneous contractions in the esophageal body (classic achalasia). Since the initial description, several studies have attempted to explore initiating agents that may cause the disease, such as viral infection, other environmental factors, autoimmunity, and genetic factors. Though Chagas disease, which mimics achalasia, is caused by an infective agent, available evidence suggests that infection may not be an independent cause of primary achalasia. A genetic basis for achalasia is supported by reports showing occurrence of disease in monozygotic twins, siblings and other first-degree relatives and occurrence in association with other genetic diseases such as Down's syndrome and Parkinson's disease. Polymorphisms in genes encoding for nitric oxide synthase, receptors for vasoactive intestinal peptide, interleukin 23 and the ALADIN gene have been reported. However, studies on larger numbers of patients and controls from different ethnic groups are needed before definite conclusions can be obtained. Currently, the disease is believed to be multi-factorial, with autoimmune mechanisms triggered by infection in a genetically predisposed individual leading to degeneration of inhibitory ganglia in the wall of the esophagus.
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PMID:Pathogenesis of achalasia cardia. 2279 40

Actually, achalasia can be defined as a primary esophageal motor disorder characterized by esophageal aperistalsis and abnormal post-deglutitive lower esophageal sphincter (LES) relaxation. Its incidence varies from 0.03 to 1.63 cases per 100,000 people per year and increases with age, while the prevalence is almost 10/100,000 with no difference between the sexes. Regarding etiology, the most frequent histologic alteration is represented by the loss of the myenteric nerve fibers regulating inhibitory nitrergic neurotransmission in the LES, with the presence of a lymphocytic infiltrate and collagen deposition. The cause of this loss remains unclear. Among the theories proposed, the infectious, hereditary and autoimmune etiologies have been widely investigated. The only infectious agent identified as a cause of achalasia is Trypanosoma Cruzi, responsible of Chagas' disease. Regarding hereditary component, in rare cases achalasia presents as part of a genetic syndrome such as Down syndrome, Allgrove syndrome and familial visceral neuropathy. Although, no disease-specific gene has been identified. The autoimmune hypothesis has focused on the association of specific HLA classes with achalasia. However, no consistent association has been observed across studies. Despite increasing understanding of the physiopathology of achalasia, its etiology remains largely unknown. The onset of the disease is characterized by chronic inflammation of the myenteric plexus of the esophagus secondary to an environmental insult. Probably, genetic factors are involved in the development of achalasia, although the precise molecular basis of the disease has not been identified.
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PMID:Definition, incidence and etiology: what's new in the 21st century? 2414 Nov 99

Achalasia is a rare primary oesophageal motility disorder that presents as a functional obstruction at the oesophago-gastric junction. The prevalence of achalasia in Down syndrome is much higher, which implies a unique association between these two uncommon conditions. Although the exact aetiology of achalasia is unknown, studies have proposed that its pathogenesis is related to autoimmune, infectious or genetic factors, leading to the intrinsic loss of inhibitory myenteric neurons in both the oesophagus and lower oesophageal sphincter. We herein report the case of a 16-month-old girl with Down syndrome and achalasia who was initially treated for gastro-oesophageal reflux disease. The diagnosis of achalasia was made only when her condition deteriorated, with subsequent failure to thrive, and upon further investigations, including barium swallow study and upper endoscopy. We also review the various mechanisms postulated in the development of achalasia in Down syndrome, as well as the various treatment modalities available for this rare disorder.
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PMID:Achalasia and Down syndrome: a unique association not to be missed. 2437 17


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