Adrenoleucodistrofia ligada al X: presentación de tres casos. Importancia del diagnóstico precoz
| Autor: | María C García Jiménez, Marta López Úbeda, Marta Ferrer Lozano, Antonio de Arriba Muñoz, José Ignacio Labarta Aizpún |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
Pediatrics
medicine.medical_specialty Adrenal cortex business.industry Very long chain Disease medicine.disease Asymptomatic medicine.anatomical_structure Pediatrics Perinatology and Child Health Peroxisomal disorder medicine Adrenal insufficiency Neurological dysfunction Adrenoleukodystrophy medicine.symptom business |
| Zdroj: | Zaguán. Repositorio Digital de la Universidad de Zaragoza instname |
| ISSN: | 0325-0075 |
| DOI: | 10.5546/aap.2017.e279 |
| Popis: | X-linked adrenoleukodystrophy is the most common peroxisomal disorder. This disease is caused by a defect in the ABCD1 gen. Saturated very long chain fatty acids are accumulated in serum, adrenal cortex and central nervous system white matter. The clinical spectrum is characterized by progressive neurological dysfunction and adrenal insufficiency with a devastating prognosis. We report a first case of X-linked adrenoleukodystrophy with fatal evolution which identified two asymptomatic family members and established a preventive treatment. Although there is no definitive cure, we stress the importance of family study and evaluation of the individual in situation of risk to establish an early preventive treatment and to give in each particular situation suitable professional advice. |
| Databáze: | OpenAIRE |
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