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Adrenal Insufficiency by Adrenoleukodystrophy

Health 2020年第1期12卷 1-13页

作者： Elda Cristinne Mattos Botelho Eduardo Romero Sampaio Botelho Luciana Correa de Souza Rodrigues Tatiana Prado Wanderley Fernanda Navarini Queiroz Pollyana Cirino Gomes Borges sabrina arrais rolim aragao ximenes cruz Janete Pacheco da Silva Larissa Bianca Cunha de Sa Alberto Krayyem Arbex IPEMED Medical School AFYA EducationalBrasíliaBrazil Medical Clinic in Endocrinology and Diabetology Schleswig-FlensburgGermany

The X-linked adrenoleukodystrophy (ALD) is a severe neurodegenerative disorder due to mutations in the ABCD1 gene. Objective: To report a case of a 19-year-old man with adrenal insufficiency due to adrenoleukodystrophy. Method: Case report and literature review. Result: A previously healthy 19-year-old male patient was admitted to the emergency room with nausea and vomiting for 5 days, who progressed to abdominal pain, severe asthenia, and fever (38.5°C). He referred progressive darkening of the skin, oral mucosa, tongue and nail bed of the hands and feet, observed in the last 6 years. Emergency laboratory evaluation showed severe hyponatremia and hyperkalemia, which, together with decreased plasma cortisol, directed the investigation to causes of adrenal insufficiency. High ACTH (Adrenocorticotropic hormone) and very long chain fatty acid levels closed the diagnosis. Discussion: ALD is characterized by progressive demyelination in the central and peripheral nervous system and adrenal insufficiency consequence to the accumulation of very long chain fatty acids (VLCFA) in the adrenal. The overall incidence of ALD is 1:17,000. Adrenal insufficiency may be the first symptom of ALD in boys and adults. The diagnosis is based on the measurement of VLCFA plasma levels. Allogeneic bone marrow transplantation is the only treatment that provides a permanent cure when the procedure is performed at an early stage of brain demyelination, i.e. when patients are asymptomatic, although brain magnetic resonance imaging (MRI) is abnormal. Treatment of Addison’s disease is obligatory, but does not change the course of neurological symptoms.

关键词： Adrenoleukodystrophy Adrenomyeloneuropathy Adrenal Insufficiency Addison’s Disease

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