Bardet-Biedl Syndrome, Crohn Disease, Primary Sclerosing Cholangitis, and Autoantibody Positive Thyroiditis : A Case Report and A Review of a Cohort of BBS Patients
Joint Authors
Source
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-08-15
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Bardet-Biedel syndrome (BBS) is a rare autosomal recessive, genetically heterogeneous ciliopathy.
Although the disease has been described in a patient with psoriasis, individuals with BBS are not known to be at risk of developing autoimmune disorders.
Our objective was to describe a 14-year-old patient with BBS who presented with Crohn disease (CD), primary sclerosing cholangitis (PSC), and thyroiditis in the context of a cohort review at Sainte-Justine Hospital and to alert clinicians to the increased risk of autoimmune disorders in these patients.
The cohort contained fifteen patients (9 boys), followed from 1968 to 2009 during a median period of 12 years (range 9 months–26 years).
Three of the 15 patients (20%) developed a chronic autoimmune disease: one had juvenile rheumatoid arthritis; a second one had type 1 diabetes mellitus in association with Hashimoto thyroiditis and psoriasis; a third one developed CD, PSC, and Hashimoto thyroiditis.
As chronic autoimmune diseases occurred in 20% of our cohort of children with BBS, it is appropriate to keep this association in mind during the followup.
American Psychological Association (APA)
Halac, Ugur& Herzog, Denise. 2012. Bardet-Biedl Syndrome, Crohn Disease, Primary Sclerosing Cholangitis, and Autoantibody Positive Thyroiditis : A Case Report and A Review of a Cohort of BBS Patients. Case Reports in Medicine،Vol. 2012, no. 2012, pp.1-5.
https://search.emarefa.net/detail/BIM-454795
Modern Language Association (MLA)
Halac, Ugur& Herzog, Denise. Bardet-Biedl Syndrome, Crohn Disease, Primary Sclerosing Cholangitis, and Autoantibody Positive Thyroiditis : A Case Report and A Review of a Cohort of BBS Patients. Case Reports in Medicine No. 2012 (2012), pp.1-5.
https://search.emarefa.net/detail/BIM-454795
American Medical Association (AMA)
Halac, Ugur& Herzog, Denise. Bardet-Biedl Syndrome, Crohn Disease, Primary Sclerosing Cholangitis, and Autoantibody Positive Thyroiditis : A Case Report and A Review of a Cohort of BBS Patients. Case Reports in Medicine. 2012. Vol. 2012, no. 2012, pp.1-5.
https://search.emarefa.net/detail/BIM-454795
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-454795