TY - JOUR
T1 - Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long-chain fatty acid screening
AU - Dubey, Prachi
AU - Raymond, Gerald V.
AU - Moser, Ann B.
AU - Kharkar, Sidharth
AU - Bezman, Lena
AU - Moser, Hugo W.
N1 - Funding Information:
Supported by the Johns Hopkins University School of Medicine General Research Center, grant MO1-RR00052, from the National Center for Research Resources/NIH and grants HD-10981 from the NIH and FR-R-000685 from the FDA.
PY - 2005/4
Y1 - 2005/4
N2 - Objective: Plasma assay for very long-chain fatty acids has made it possible to perform large-scale screening of at-risk individuals to identify asymptomatic patients with X-linked adrenoleukodystrophy (X-ALD). We evaluated the burden of undiagnosed adrenal insufficiency in 49 such patients (age, 4.5 ± 3.5 years). Study design: Serum adrenocorticotropic hormone (ACTH) and standard-dose ACTH stimulation test were performed at the baseline and followed prospectively until initiation of adrenal replacement therapy (follow-up, 2 ± 1.7 years). Results: At baseline, 39 (80%) patients had impaired adrenal function, serum ACTH levels were elevated in 34 (69%) patients, and ACTH stimulation test was abnormal in 21(43%) patients. There was a moderate association between Serum ACTH and age at baseline, (r = 0.32, P = .05). By the end of follow-up, 86% of patients had borderline or overt adrenal insufficiency (age of onset, 4.8 ± 3.7 years). Conclusions: We detected a high prevalence of unrecognized adrenocortical insufficiency in asymptomatic boys with X-ALD. It is known to be a frequent cause of morbidity and can be prevented by careful monitoring, early identification of impaired adrenal reserve, and timely initiation of therapy. It manifests early and before onset of neurologic symptoms, suggesting X-ALD as a candidate disorder for neonatal screening.
AB - Objective: Plasma assay for very long-chain fatty acids has made it possible to perform large-scale screening of at-risk individuals to identify asymptomatic patients with X-linked adrenoleukodystrophy (X-ALD). We evaluated the burden of undiagnosed adrenal insufficiency in 49 such patients (age, 4.5 ± 3.5 years). Study design: Serum adrenocorticotropic hormone (ACTH) and standard-dose ACTH stimulation test were performed at the baseline and followed prospectively until initiation of adrenal replacement therapy (follow-up, 2 ± 1.7 years). Results: At baseline, 39 (80%) patients had impaired adrenal function, serum ACTH levels were elevated in 34 (69%) patients, and ACTH stimulation test was abnormal in 21(43%) patients. There was a moderate association between Serum ACTH and age at baseline, (r = 0.32, P = .05). By the end of follow-up, 86% of patients had borderline or overt adrenal insufficiency (age of onset, 4.8 ± 3.7 years). Conclusions: We detected a high prevalence of unrecognized adrenocortical insufficiency in asymptomatic boys with X-ALD. It is known to be a frequent cause of morbidity and can be prevented by careful monitoring, early identification of impaired adrenal reserve, and timely initiation of therapy. It manifests early and before onset of neurologic symptoms, suggesting X-ALD as a candidate disorder for neonatal screening.
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U2 - 10.1016/j.jpeds.2004.10.067
DO - 10.1016/j.jpeds.2004.10.067
M3 - Article
C2 - 15812458
AN - SCOPUS:16344362289
SN - 0022-3476
VL - 146
SP - 528
EP - 532
JO - Journal of Pediatrics
JF - Journal of Pediatrics
IS - 4
ER -