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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2014

Open Access 01-12-2014 | Letter to the Editor

High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders

Authors: Kevin Berendse, Marc Engelen, Gabor E Linthorst, AS Paul van Trotsenburg, Bwee Tien Poll-The

Published in: Orphanet Journal of Rare Diseases | Issue 1/2014

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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.
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Metadata
Title
High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders
Authors
Kevin Berendse
Marc Engelen
Gabor E Linthorst
AS Paul van Trotsenburg
Bwee Tien Poll-The
Publication date
01-12-2014
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2014
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/s13023-014-0133-5

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