Early diagnosis of cerebral X-linked adrenoleukodystrophy in boys with Addison's disease improves survival and neurological outcomes
| Autor: | Steven M. Rothman, Saydi E. Chahla, David Nascene, Jakub Tolar, Teresa Kivisto, Anna Petryk, Paul J. Orchard, Weston P. Miller, Lynda E. Polgreen |
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| Rok vydání: | 2010 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty endocrine system congenital hereditary and neonatal diseases and abnormalities Delayed Diagnosis endocrine system diseases Central nervous system Disease Article Cohort Studies Addison Disease X-linked adrenoleukodystrophy medicine Adrenal insufficiency Humans Adrenoleukodystrophy Child Retrospective Studies business.industry Hematopoietic Stem Cell Transplantation nutritional and metabolic diseases Infant Retrospective cohort study medicine.disease Transplantation medicine.anatomical_structure Early Diagnosis Treatment Outcome Addison's disease Child Preschool Pediatrics Perinatology and Child Health Physical therapy Disease Progression business Adrenal Insufficiency |
| Zdroj: | European journal of pediatrics. 170(8) |
| ISSN: | 1432-1076 |
| Popis: | Approximately one third of boys with X-linked adrenoleukodystophy (X-ALD) develop an acute, progressive inflammatory process of the central nervous system, resulting in rapid neurologic deterioration and death. Hematopoietic cell transplantation (HCT) can halt the progression of neurologic disease if performed early in the course of the cerebral form of X-ALD. We describe a retrospective cohort study of 90 boys with X-ALD evaluated at our institution between 2000 and 2009, to determine if early diagnosis of X-ALD following the diagnosis of unexplained adrenal insufficiency (AI) improves outcomes. We describe seven cases with a delay in the diagnosis of X-ALD and compare their outcomes to ten controls with the diagnosis of ALD made within 12 months following diagnosis of AI. At the time of evaluation for HCT, boys with a delay in the diagnosis of X-ALD had more extensive cerebral involvement and more limited functioning. These boys also were 3.9 times more likely to die and had significant advancement of cerebral disease after HCT, compared with boys with a timely diagnosis of X-ALD. In conclusion, the early diagnosis of cerebral X-ALD following the diagnosis of unexplained AI, and subsequent treatment with HCT improves both neurological outcomes and survival in boys with cerebral X-ALD. |
| Databáze: | OpenAIRE |
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