Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042963 (vomiting)
 31,883 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 15-year-old girl with familial dysautonomia had acute corneal ulcerations while on a respiratory during a dysautonomic crisis. Within 18 days she developed irritating corneal ring calcifications. Subsequent corneal perforation in the left eye was treated successfully with a lamellar graft, followed later by a penetrating graft in the right eye under local anesthesia. Four days postoperatively, the patient died during a vomiting crisis. Neuropathologic studies showed marked cell reduction in the superior cervical and trigeminal ganglia, but slight in the ciliary. The foveas appeared immature and macular ganglion cells were mildly reduced. The corneal button and lamellar grafted cornea had severe thinning and superficial calcification. Keratoplasty in familial dysautonomia is considered hazardous because of the continual threat of vomiting crises, but with sufficient care may be worthwhile for corneal perforation or advanced corneal scarring.
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PMID:Corneal transplantation in familial dysautonomia. 39 Oct 49

Thirty-four children with familial dysautonomia (FD) underwent Nissen fundoplication and gastrostomy. The indications for operation were persistent cyclic vomiting that resulted in repeated aspiration pneumonia (94% of the patients), chronic dehydration (82%), failure to thrive (97%), and frequent hospitalizations (76%). There was no operative or early postoperative mortality. Long-term follow-up for up to 12 years was available. Eight patients died during this period from 7 months to 7.5 years postoperatively. In 5 patients (15% of the operated patients), the fundoplication ceased to function 16 months to 5 years postoperatively, which was attributed mainly to repeated severe dysautonomic crises with vigorous retching. Vomiting ceased in 85% of the symptomatic patients; pulmonary deterioration was halted, and the frequency of aspiration pneumonia was reduced in 68%; nutritional improvement was seen in 44%; the hydration status improved in 88%; and the frequency of hospital admissions decreased in 74%. These long-term findings resulted in a significant improvement in the quality of life for the majority of the patients. The absence of operative mortality and the low postoperative morbidity, together with the long-term beneficial results of this surgical procedure, should encourage early surgical intervention in selected FD patients.
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PMID:Nissen fundoplication in the treatment of children with familial dysautonomia. 141 39

Riley-Day syndrome (RDS, familial dysautonomia) is reviewed from a viewpoint of autonomic disturbance. RDS shows pandysautonomia, including alacrima, orthostatic hypotension, gastrointestinal paresis, and paroxysmal hyperautonomic state, such as hypertension, vomiting crisis, and blotchy erythema. Sensory disturbances, including absence of taste and pain sensation, are common. Fungiform papillae on the tongue are sparse. Tests of autonomic function reveal postganglionic dysfunction. Sural nerve biopsy reveals depletion of small myelinated fibers and unmyelinated fibers, which corresponds well with the sensory and autonomic disturbances. As to the pathogenesis of RDS, dysgenesis of neurons from the neural crest or abnormality of nerve growth factor has been suggested, but this remains undetermined.
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PMID:[Riley-Day syndrome (familial dysautonomia)]. 161 69

Fundoplication with gastrostomy has become a frequent treatment for patients with familial dysautonomia, so we evaluated the use of both procedures in 65 patients. Although patients differed widely in presenting signs and age, from 5 weeks to 40 years, gastroesophageal reflux was documented in 95% of patients by cineradiography or pH monitoring. Panendoscopy was a useful adjunct. Preoperative symptoms of gastroesophageal reflux included vomiting, respiratory infections, and exaggerated autonomic dysfunction. Severe oropharyngeal incoordination frequently coexisted and resulted in misdirected swallows with aspiration, dependence on gavage feedings, or poor weight gain and dehydration. Follow-up after surgical correction ranged from 3 months to 11 years; 55 patients (85%) were available for a 1-year postoperative assessment. We had no instances of surgical death. The long-term mortality rate was 14%, primarily related to severe preexisting respiratory disease. Beyond the first postoperative year, 30 patients had pneumonia attributed to continued aspiration, exacerbation of preexisting lung disease, or recurrence of gastroesophageal reflux. Of 11 patients who vomited postoperatively, six had recurrence of reflux. Recurrence of gastroesophageal reflux was documented in eight patients (12%), and we revised the fundoplication in three patients. The number of patients with cyclic crises was reduced from 18 to 7; retching replaced overt vomiting in all but two of these seven patients, neither of whom had recurrence of reflux. Because oropharyngeal incoordination was prominent, concomitant use of gastrostomy and an antireflux procedure was especially effective in the treatment of younger patients with familial dysautonomia, before the development of severe respiratory disease. Despite the development of severe morning nausea in 15 patients, the combination procedure resulted in significantly improved nutritional status, decreased vomiting, and decreased respiratory problems. Appropriate use of gastrostomy feedings also contributed to success of the operation. The generally good outcome of fundoplication with gastrostomy confirms the benefit of this procedure in familial dysautonomia.
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PMID:Fundoplication and gastrostomy in familial dysautonomia. 199 77

Familial dysautonomia (FD) is a rare incurable genetic disorder with multisystem involvement. Most of its clinical manifestations are related to disorders of the autonomic nervous system. The disease is associated with specific disturbances of the upper gastrointestinal tract: pharyngoesophageal dyskinesia, gastroesophageal reflux, and prolonged gastric emptying. About 40% of the dysautonomic children manifest repeat vomiting crises. In view of the extensive gastrointestinal symptomatology, children with FD are prone to repeated aspiration pneumonia and chronic respiratory failure, while inadequate calory and fluid intake may lead to a chronic state of hypovolemia and severe failure to thrive. Control of vomiting, prevention of aspiration due to abnormal swallowing, and the assurance of adequate calory intake are three major objectives in the treatment of the dysautonomic child. Medical treatment of the gastrointestinal disorders using different drugs has had limited success. This study reviews the surgical experience in ten children with FD. The type of the procedure used was determined by the severity of the upper GI disturbances. Nine children underwent gastroesophageal Nissen fundoplication and gastrostomy. In seven of them, a pyloroplasty was added. Gastrostomy alone was done in one patient only. Postoperative complications included transient dysphagia in four patients, gastric dilatation in four patients, and dumping syndrome in one. There has been no incidence of immediate postoperative death. One child died 6 months after operation from severe and irreversible respiratory failure. Following operation, the patients still suffered from dysautonomic crises but these were not associated with vomiting.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:The surgical management of children with familial dysautonomia. 408 89

Gastric and esophageal dysfunction are components of familial dysautonomia. The limited success of various medical management programs, has led to two types of surgical intervention. Experience with nine patients who had gastrostomy alone and 12 patients who had gastroesophageal fundoplication is reviewed. Both surgical procedures decreased frequency of vomiting and pneumonias and had positive effects on weight gain. Although "dysautonomic crises" are not eliminated, sufficient modification in character occurs so that associated risks are lessened. It is suggested that if medical management cannot control recurrent pneumonia, postprandial vomiting, esophageal bleeding, and/or inadequate weight gain, then the patient should be evaluated for fundoplication and/or gastrostomy.
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PMID:Gastroesophageal fundoplication and gastrostomy in familial dysautonomia. 705 37

Familial dysautonomia, also known as Riley-Day syndrome, is a disorder of autonomic nervous system with an autosomal recessive mode of inheritance. Reduction and/or loss of unmyelinated and small myelinated fibers is found, as reduction of dopamine beta-hydroxylase in blood. The diagnosis is based on clinical features: diminished lacrimation, insensitivity to pain, poor temperature control, abolished deep tendon reflexes, postural hypotension, vomiting attacks, poor motor coordination, and mental retardation. The treatment is symptomatic and many children die during the first years of life, usually as a result of repeated aspiration pneumonia. We report the case of a 1 year-old child with familial dysautonomia.
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PMID:Familial dysautonomia (Riley-Day syndrome). 800 97

A 14-month-old female with familial dysautonomia was referred to the pediatric department with high fever (41.6 degrees C), watery diarrhea, and vomiting. A few hours later, signs of encephalopathy appeared. Laboratory tests revealed elevated levels of lactate dehydrogenase (3500 U/L), aspartate aminotransferase (640 U/L), alanine aminotransferase (320 U/L), and creatine kinase (28,420 U/L). The diagnosis was heat stroke. Impaired autonomic nervous system function may be another risk factor for the development of heat stroke in young children.
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PMID:Heat stroke in familial dysautonomia. 1458 Jun 63

Familial dysautonomia (FD) is a neurodevelopmental genetic disorder within the larger classification of hereditary sensory and autonomic neuropathies, each caused by a different genetic error. The FD gene has been identified as IKBKAP. Mutations result in tissue-specific expression of mutant IkappaB kinase-associated protein (IKAP). The genetic error probably affects development, as well as maintenance, of neurons because there is neuropathological and clinical progression. Pathological alterations consist of decreased unmyelinated and small-fiber neurons. Clinical features reflect widespread involvement of sensory and autonomic neurons. Sensory loss includes impaired pain and temperature appreciation. Autonomic features include dysphagia, vomiting crises, blood pressure lability, and sudomotor dysfunction. Central dysfunction includes emotional lability and ataxia. With supportive treatment, prognosis has improved greatly. About 40% of patients are over age 20 years. The cause of death is usually pulmonary failure, unexplained sudden deaths, or renal failure. With the discovery of the genetic defect, definitive treatments are anticipated.
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PMID:Familial dysautonomia. 1498 33

Treatment of familial dysautonomia, a genetic disorder affecting neuronal development and survival, has improved morbidity and survival for this disorder. Although this is primarily a neurological disorder causing sensory and autonomic dysfunction, there are secondary systemic perturbations affecting ophthalmological, gastrointestinal, respiratory, cardiovascular, orthopaedic and renal function. Penetrance is complete, but there is marked variability in expression. Preventative and supportive treatments have included measures to maintain eye moisture, fundoplication with gastrostomy, the use of central agents such as benzodiazepines and clonidine to control vomiting and the dysautonomic crisis, and fludrocortisone and midodrine to combat cardiovascular lability. With the identification of the familial dysautonomia gene, it has been suggested that it may be possible to treat patients by modifying production and expression of the genetic product.
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PMID:Familial dysautonomia: a review of the current pharmacological treatments. 1593 82


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