| Autor: |
Herman M; Students' Science Society, Wroclaw Medical University., Jura M; Students' Science Society, Wroclaw Medical University., Krakowska K; Students' Science Society, Wroclaw Medical University., Barg E; Department of Basic Medical Sciences, Wroclaw Medical University. |
| Jazyk: |
angličtina |
| Zdroj: |
Pediatric endocrinology, diabetes, and metabolism [Pediatr Endocrinol Diabetes Metab] 2019; Vol. 25 (2), pp. 95-98. |
| DOI: |
10.5114/pedm.2019.85821 |
| Abstrakt: |
Adrenoleukodystrophy is a genetic diseases classified in the group of peroxisomal disorders caused by mutations in ABCD1, gene located on the X chromosome (Xq28). It demonstrates X-linked recessive inheritance. There is an accumulation of very long-chain fatty acids (VLCFA) in plasma and all tissues in the process of ALD. No causal treatment for ALD is known, although hematopoietic stem cell transplantation (HSCT) and gene therapy are allowed for early diagnosis in childhood cerebral form. The case report describes three of the brothers suffering from ALD, diagnosed in different stages of disease. The eldest brother was diagnosed by the age of nine, with the first symptom of hearing loss. After that, test was also conducted in boy's younger brother - he was then asymptomatic, however diagnosed with ALD at age 7. The mutation in the ABCD1 gene was also detected in the mother's blood. Due to the significant severity of the disease, the eldest boy was not qualified for HSCT. Nowadays, 2 years after, the health condition of the eldest brother is severe. The middle brother underwent HSCT. Currently, the he is in a good general condition. The youngest brother had genetic testing performed shortly after birth. The mutation in the ABCD1 gene also was confirmed, but in this moment there is no regarding to HSCT. His development is adequally to age, but he has adrenal insufficiency. All of brothers are treated hydrocortisone. Parental awareness and early genetic tests (including prenatal tests) are very important because ALD is associated with severe course and high mortality, and its symptoms are non-specific. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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