High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders

Orphanet Journal of Rare Diseases

Bwee Tien Poll¿The²  AS Paul van Trotsenburg¹  Gabor E Linthorst⁴  Marc Engelen²  Kevin Berendse³ 

[1] Department of Paediatric Endocrinology, Emma Children¿s Hospital/Academic Medical Centre, Meibergdreef 9, Amsterdam 1105 AZ, The Netherlands;Department of Paediatric Neurology, Emma Children¿s Hospital/Academic Medical Centre, Meibergdreef 9, Amsterdam 1105 AZ, The Netherlands;Laboratory for Genetic Metabolic Diseases, Emma Children¿s Hospital/Academic Medical Centre, Meibergdreef 9, Amsterdam 1105 AZ, The Netherlands;Department of Endocrinology and Metabolism, Emma Children¿s Hospital/Academic Medical Centre, Meibergdreef 9, Amsterdam 1105 AZ, The Netherlands

关键词: X-linked adrenoleukodystrophy;    Zellweger spectrum disorders;    Very long-chain fatty acids;    peroxisomal disorders;    Adrenal insufficiency;   

Others  :  1149993
DOI  :  10.1186/s13023-014-0133-5

 received in 2014-06-26, accepted in 2014-08-18,  发布年份 2014

【 摘 要 】

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.

【 授权许可】

   
2014 Berendse et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

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