29. X-linked adrenoleukodystrophy: 2 cases report
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Abstract
X-linked adrenoleukodystrophy (X-ALD) is rare, a monogenic disease caused by mutations in the ABCD1 gene on chromosome Xq28.1, established in the male proband with suggestive clinical findings. The disease causes damage to many organs with 3 clinical forms: Cerebral form, Adrenomyeloneuropathy (AMN) and Adison disease only. X-ALD has a common manifestation in young children with cerebral form: brain damage with adrenal insufficiency. Our method included the investigation of medical history, clinical examination and treatment. ABCD1 mutations were tested by next generation sequencing. Phenotypes of X-ALD patients were extremely variable. Early diagnosis and treatment help children prolong life and genetic counseling for families to avoid having sick children. Study results are the genetic basis for early diagnosis, prenatal diagnosis for the newborn children of each of these families.
Article Details
Keywords
adrenoleucodystrophy, children
References
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