TY - JOUR
T1 - High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders
AU - Berendse, Kevin
AU - Engelen, Marc
AU - Linthorst, Gabor E.
AU - van Trotsenburg, A. S. Paul
AU - Poll-The, Bwee Tien
PY - 2014
Y1 - 2014
N2 - 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
AB - 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
U2 - https://doi.org/10.1186/s13023-014-0133-5
DO - https://doi.org/10.1186/s13023-014-0133-5
M3 - Comment/Letter to the editor
C2 - 25179809
SN - 1750-1172
VL - 9
SP - 133
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
ER -