Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0017168 (gastroesophageal reflux disease)
 11,783 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Del(22q11) is a common microdeletion syndrome with an extremely variable phenotype. Besides classical manifestations, such as velocardiofacial (Shprintzen) or DiGeorge syndromes, del(22q11) syndrome may be associated with unusual but probably causally related anomalies that expand its phenotype and complicate its recognition. We report here three children with the deletion and a chronic, erosive polyarthritis resembling idiopathic cases of juvenile rheumatoid arthritis (JRA). Patient 1, born in 1983, initially presented with developmental delay, facial dysmorphism, velopharyngeal insufficiency, and severe gastro-oesophageal reflux requiring G tube feeding. From the age of 3 years, he developed JRA, which resulted in severe restrictive joint disease, osteopenia, and platyspondyly. Patient 2, born in 1976, had tetralogy of Fallot and peripheral pulmonary artery stenosis. She developed slowly, had mild dysmorphic facial features, an abnormal voice, and borderline intelligence. JRA was diagnosed at the age of 5 years. The disorder followed a subacute course, with relatively mild inflammatory phenomena, but an extremely severe skeletal involvement with major osteopenia, restrictive joint disease (bilateral hip replacement), and almost complete osteolysis of the carpal and tarsal bones with phalangeal synostoses, leading to major motor impairment and confinement to a wheelchair. Patient 3, born in 1990, has VSD, right embryo-toxon, bifid uvula, and facial dysmorphism. She developed JRA at the age of 1 year. She is not mentally retarded but has major speech delay secondary to congenital deafness inherited from her mother. In the three patients, a del(22q11) was shown by FISH analysis. These observations, and five other recently published cases, indicate that a JRA-like syndrome is a component of the del(22q11) spectrum. The deletion may be overlooked in those children with severe, chronic inflammatory disorder.
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PMID:Juvenile rheumatoid arthritis and del(22q11) syndrome: a non-random association. 983 43

A seven-year-old white male presented with recurrent bouts of paranasal sinusitis, streptococcal pharyngotonsillitis, lower respiratory tract infections, continuous low-grade fever, and conjunctivitis, which required frequent use of antibiotics over a period of two years. A careful review of systems also revealed a six-month history of arthralgia affecting his knees, elbows, and hands, which limited his daily activities. Prominent in the history were recurrent bouts of a generalized salmon-red, nonpruritic rash, which was most pronounced on the face and trunk and which was exacerbated by fever. His past medical history revealed severe bouts of gastroesophageal reflux disease, chronic intermittent bloody mucous diarrhea, and atopic dermatitis. A detailed review of the patient's family pedigree over five generations revealed a strong genetic predisposition for autoimmune diseases of several types. His physical examination revealed a thin, pale, chronically ill-appearing male, bilateral conjunctivitis, and pale nasal mucosae with no lymphadenopathy, organomegaly, arthritis, or rash. All laboratory results were unremarkable except for a positive rheumatoid factor and a suboptimal antibody response to immunization with pneumococcal vaccine. A diagnosis of juvenile rheumatoid arthritis of the systemic onset type was established, and, based upon his humoral immune deficiency, treatment with intravenous immunoglobulin was initiated with remarkable improvement in his symptomatology.
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PMID:Recurrent infections and joint pain. 1672 38