| SMAD4 mutation and the combined syndrome of juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia. | |
| | |
MedLine Citation:
|
PMID: 20685751 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Juvenile polyposis syndrome (JPS) and hereditary haemorrhagic telangiectasia (HHT) are autosomal dominant disorders with characteristic clinical phenotypes. Recently, reports of the combined syndrome of JPS and HHT have been described in individuals with mutations in the SMAD4 gene, whose product-SMAD4-is a critical intracellular effector in the signalling pathway of transforming growth factor beta (TGFbeta). This report describes a 24-year-old man who presented to the Respiratory Institute after colectomy for JPS with a SMAD4 mutation and who was subsequently diagnosed to have HHT with asymptomatic cerebral and pulmonary arteriovenous malformations (AVMs). Patients with JPS due to a SMAD4 mutation should be screened for the vascular lesions associated with HHT, especially occult AVMs in visceral organs, which may potentially present catastrophically with serious medical consequences. |
| | |
Authors:
|
Nithya K Iyer; Carol A Burke; Brandie H Leach; Joseph G Parambil |
Publication Detail:
|
Type: Case Reports; Journal Article |
Journal Detail:
|
Title: Thorax Volume: 65 ISSN: 1468-3296 ISO Abbreviation: Thorax Publication Date: 2010 Aug |
Date Detail:
|
Created Date: 2010-08-05 Completed Date: 2010-09-01 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 0417353 Medline TA: Thorax Country: England |
Other Details:
|
Languages: eng Pagination: 745-6 Citation Subset: IM |
Affiliation:
|
Department of Pulmonary & Critical Care Medicine, Respiratory Institute, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adenomatous Polyposis Coli
/
genetics* Arteriovenous Malformations / radiography Humans Intracranial Arteriovenous Malformations / diagnosis Male Mutation* Pulmonary Artery / abnormalities Pulmonary Veins / abnormalities Smad4 Protein / genetics* Telangiectasia, Hereditary Hemorrhagic / genetics*, radiography Tomography, X-Ray Computed Young Adult |
| Chemical | |
Reg. No./Substance:
|
0/SMAD4 protein, human; 0/Smad4 Protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: NOX4/NADPH oxidase expression is increased in pulmonary fibroblasts from patients with idiopathic pu...
Next Document: The impact of polymyxin B dosage on in-hospital mortality of patients treated with this antibiotic.