| Increased Prevalence of Carpal Tunnel Syndrome in Albright Hereditary Osteodystrophy. | |
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MedLine Citation:
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PMID: 21525160 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Context: Albright hereditary osteodystrophy (AHO) is a rare genetic disorder characterized by phenotypic abnormalities including brachydactyly/brachymetacarpia, short stature, and sc ossifications. Carpal tunnel syndrome (CTS) is a chief complaint in many patients with AHO. Objective: The objective of the study was to investigate the prevalence of CTS in patients with AHO. Design: This was a cross-sectional study. Setting: The study was conducted at the Clinical Research Center (Institute of Clinical and Translational Medicine), Johns Hopkins University School of Medicine and Albright Clinic, Kennedy Krieger Institute. Participants: Thirty-three subjects with a diagnosis of AHO participated in the study. Main Outcome Measures: We assessed for the presence and location of hand tingling, numbness, pain, weakness, flick sign, difficulty with fine motor skills, severe hand or nail biting, and nocturnal symptoms in the setting of normocalcemia and a euthyroid state. Patients were considered to have CTS if they were positive for three of these symptoms. All subjects were analyzed for mutations in the GNAS gene. Results: Twenty-two subjects (67%) had a clinical diagnosis of CTS (95% confidence interval 0.48, 0.82). Twenty-eight of 33 subjects were confirmed to have mutations in GNAS, of whom 68% had CTS (95% confidence interval 0.48, 0.84). There were 14 children in this study; 36% had a clinical diagnosis of CTS. Body mass index, brachydactyly/brachymetacarpia, prior GH treatment, and specific GNAS mutations were not associated with CTS. Conclusions: We report a high prevalence of CTS in both adults and children with AHO. The diagnosis of CTS should be considered when evaluating a patient with AHO because the intervention for CTS could improve overall function and quality of life in these patients. |
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Authors:
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Andrew W Joseph; Ashley H Shoemaker; Emily L Germain-Lee |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-4-27 |
Journal Detail:
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Title: The Journal of clinical endocrinology and metabolism Volume: - ISSN: 1945-7197 ISO Abbreviation: - Publication Date: 2011 Apr |
Date Detail:
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Created Date: 2011-4-28 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0375362 Medline TA: J Clin Endocrinol Metab Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Johns Hopkins Bloomberg School of Public Health (A.W.J.), Johns Hopkins University, Department of Pediatrics (A.W.J., A.H.S., E.L.G.-L.), Johns Hopkins University School of Medicine, and Hugo W. Moser Research Institute and Albright Clinic at Kennedy Krieger Institute (E.L.G.-L.), Baltimore, Maryland 21205; University of Michigan Medical School (A.W.J.), Ann Arbor, Michigan 48109; and Department of Pediatrics (A.H.S.), Vanderbilt University School of Medicine, Nashville, Tennessee 37221. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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