Title |
High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders
|
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Published in |
Orphanet Journal of Rare Diseases, September 2014
|
DOI | 10.1186/s13023-014-0133-5 |
Pubmed ID | |
Authors |
Kevin Berendse, Marc Engelen, Gabor E Linthorst, AS Paul van Trotsenburg, Bwee Tien Poll-The |
Abstract |
Zellweger spectrum disorders are a group of autosomal recessive disorders characterized by impaired peroxisome functions. The clinical spectrum is broad, ranging from the classical most severe Zellweger syndrome to patients with a relatively mild phenotype. Treatment options are limited to symptomatic and supportive therapy. During routine follow-up we discovered patients with asymptomatic primary adrenal insufficiency. It is important to detect impaired adrenal function because it has treatment implications. Primary adrenal insufficiency was found in 7/24 patients examined, with 4/7 being asymptomatic. Systematic evaluation of adrenal function, through a Synacthen test, should be included in the clinical management of these patients. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Scientists | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 34 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 5 | 15% |
Researcher | 5 | 15% |
Student > Bachelor | 3 | 9% |
Professor | 3 | 9% |
Other | 3 | 9% |
Other | 5 | 15% |
Unknown | 10 | 29% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 11 | 32% |
Biochemistry, Genetics and Molecular Biology | 3 | 9% |
Unspecified | 2 | 6% |
Neuroscience | 2 | 6% |
Computer Science | 1 | 3% |
Other | 5 | 15% |
Unknown | 10 | 29% |