Gepubliceerd in:
01-02-2013
The prevalence of adrenocortical insufficiency in peroxisomal biogenesis disorders (PBD): a cross-sectional cohort study
Auteurs:
K. Berendse, M. Engelen, A.S.P. van Trotsenburg, H.M. van Santen, B.T. Poll – The
Gepubliceerd in:
Tijdschrift voor Kindergeneeskunde
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bijlage 1/2013
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Extract
Peroxisomal biogenesis disorders (PBDs) are clinically characterized by a varying degree of psychomotor retardation, sensorineural deafness and retinopathy. Biochemically, all or several peroxisomal functions are impaired. This results in abnormalities in plasma, such as increased very long chain fatty acids (VLCFA), increased phytanic acid, abnormal bile acid intermediaries, increased pipecolic acid, and hyperoxaluria. Although adrenocortical insufficiency has been reported in PBD (Govaerts et al., 1984) it is not tested routinely. We decided to investigate a cohort of patient with a PBD, because untreated adrenocortical insufficiency causes significant morbidity and mortality. …