High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders

Research output: Contribution to journalComment/Letter to the editorAcademic

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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
Original languageEnglish
Pages (from-to)133
JournalOrphanet Journal of Rare Diseases
Publication statusPublished - 2014

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