Stradomska Teresa J, Drabko Katarzyna, Moszczyńska Elżbieta, Tylki-Szymańska Anna
Teresa J. Stradomska, Department of Biochemistry, Radioimmunology and Experimental Medicine, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland, fax: +48 22 815 13 13, e-mail:
Folia Neuropathol. 2014;52(2):159-63. doi: 10.5114/fn.2014.43787.
X-linked adrenoleukodystrophy is a rare, neurodegenerative peroxisomal disorder connected with mutation in the ABCD1 gene, causing impairment of the peroxisomal β-oxidation process and in consequence, accumulation of very long-chain fatty acids (VLCFA) in blood and tissues. In this study we present serum very long-chain fatty acids levels during clinical course in an X-linked adrenoleukodystrophy patient after haematopoietic stem cell transplantation (HSCT) and on Lorenzo's Oil in a 11 years' period. The patient was diagnosed at the age of 8 months by family screening. The administration of LO was started at 2 years of age. HSCT from a family donor was performed twice. VLCFA serum levels were detected by the GC method. Chimaerism subsequent to HSCT was also analyzed. Increasing very long-chain fatty acids levels correlate with a decreasing chimaerism level after haematopoietic stem cell transplantation. The sequential monitoring of very long-chain fatty acids serum levels is important and useful for assessment of engraftment, graft failure or rejection.
X连锁肾上腺脑白质营养不良是一种罕见的神经退行性过氧化物酶体疾病，与ABCD1基因突变有关，导致过氧化物酶体β氧化过程受损，结果血液和组织中极长链脂肪酸（VLCFA）积累。在本研究中，我们展示了一名X连锁肾上腺脑白质营养不良患者在造血干细胞移植（HSCT）后及服用洛伦佐油11年期间临床过程中的血清极长链脂肪酸水平。该患者通过家族筛查在8个月大时被诊断出来。2岁时开始服用洛伦佐油。进行了两次来自家族供体的造血干细胞移植。通过气相色谱法检测VLCFA血清水平。还分析了造血干细胞移植后的嵌合现象。造血干细胞移植后，极长链脂肪酸水平升高与嵌合水平降低相关。连续监测血清极长链脂肪酸水平对于评估植入、移植物失败或排斥反应具有重要意义且很有用。
