Herman Marta, Jura Maksym, Krakowska Kornelia, Barg Ewa
Students' Science Society, Wroclaw Medical University.
Department of Basic Medical Sciences, Wroclaw Medical University.
Pediatr Endocrinol Diabetes Metab. 2019;25(2):95-98. doi: 10.5114/pedm.2019.85821.
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.
肾上腺脑白质营养不良是一种遗传性疾病，归类于过氧化物酶体疾病组，由位于X染色体（Xq28）上的ABCD1基因突变引起。它表现为X连锁隐性遗传。在肾上腺脑白质营养不良的过程中，血浆和所有组织中都会积累极长链脂肪酸（VLCFA）。虽然造血干细胞移植（HSCT）和基因治疗可用于儿童脑型的早期诊断，但目前尚无针对肾上腺脑白质营养不良的病因治疗方法。该病例报告描述了三名患有肾上腺脑白质营养不良的兄弟，他们在疾病的不同阶段被诊断出来。大哥在9岁时被诊断出患有该病，首发症状是听力丧失。之后，也对他的弟弟进行了检测——当时他没有症状，但在7岁时被诊断出患有肾上腺脑白质营养不良。在母亲的血液中也检测到了ABCD1基因的突变。由于疾病的严重程度，大哥不符合造血干细胞移植的条件。如今，两年后，大哥的健康状况很严重。二哥接受了造血干细胞移植。目前，他的总体状况良好。小弟在出生后不久就进行了基因检测。也证实了ABCD1基因的突变，但目前不考虑进行造血干细胞移植。他的发育与年龄相符，但有肾上腺功能不全。所有兄弟都接受氢化可的松治疗。家长的意识和早期基因检测（包括产前检测）非常重要，因为肾上腺脑白质营养不良与严重的病程和高死亡率相关，且其症状不具特异性。
