| Clinical, pathologic, and molecular characterization of familial eosinophilic esophagitis compared with sporadic cases. | |
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MedLine Citation:
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PMID: 18434257 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND & AIMS: Eosinophilic esophagitis (EE) occurs in families. METHODS: Record review confirmed patient kinship and provided clinical information. Slide review confirmed the diagnosis (threshold peak number > or = 24 eosinophils/high-power field). RESULTS: Fifty-nine members (41 males, 18 females) of 26 families were 3 months to 47 years of age (mean age, 10.3 y) at diagnosis. The only recorded race was Caucasian. In 4 families a parent of an affected male had EE. The most common complaint at diagnosis was dysphagia (68% of patients). Endoscopy showed esophageal mucosal furrows (93% of patients) and exudates (44%). Fifty-one percent had asthma. Skin prick tests to food and aeroallergens were positive in 76% and 71%, respectively. Familial EE characteristics (clinical, endoscopic, pathologic, and global esophageal transcript expression profile analysis) were similar to sporadic EE, except among patients with mucosal furrows: familial patients had lower peak eosinophil counts in the distal esophagus (P = .03) compared with sporadic patients. The basic characteristics of EE (eg, eosinophil levels, rate of atopy) did not vary with patient age. By using genome-wide microarray analysis, no significant differences (P < .05, false-discovery rate) were observed between familial and sporadic EE. Among all patients, chest pain was more common in females (P = .02), and thickened mucosa was more common in males (P = .006). CONCLUSIONS: These data support a familial pattern of inheritance of EE and a pathogenesis shared with sporadic EE. EE should be considered in symptomatic family members of patients who have EE. |
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Authors:
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Margaret H Collins; Carine Blanchard; J Pablo Abonia; Cassie Kirby; Rachel Akers; Ning Wang; Philip E Putnam; Sean C Jameson; Amal H Assa'ad; Michael R Konikoff; Keith F Stringer; Marc E Rothenberg |
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Publication Detail:
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Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't Date: 2008-04-22 |
Journal Detail:
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Title: Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association Volume: 6 ISSN: 1542-7714 ISO Abbreviation: Clin. Gastroenterol. Hepatol. Publication Date: 2008 Jun |
Date Detail:
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Created Date: 2008-06-13 Completed Date: 2008-08-12 Revised Date: 2010-12-03 |
Medline Journal Info:
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Nlm Unique ID: 101160775 Medline TA: Clin Gastroenterol Hepatol Country: United States |
Other Details:
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Languages: eng Pagination: 621-9 Citation Subset: IM |
Affiliation:
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Division of Pathology and Laboratory Medicine, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Asthma Child Child, Preschool Deglutition Disorders / etiology Eosinophils / immunology* Esophagitis / genetics, immunology, pathology*, physiopathology* Esophagoscopy European Continental Ancestry Group Family Health* Female Gene Expression Profiling Humans Infant Male Middle Aged Mucous Membrane / pathology Oligonucleotide Array Sequence Analysis |
| Grant Support | |
ID/Acronym/Agency:
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U19 AI070235/AI/NIAID NIH HHS; U19 AI070235-010002/AI/NIAID NIH HHS; U19 AI070235-020002/AI/NIAID NIH HHS; U19 AI070235-030002/AI/NIAID NIH HHS |
| Comments/Corrections | |
Comment In:
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Clin Gastroenterol Hepatol. 2008 Nov;6(11):1283; author reply 1283
[PMID:
18995220
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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