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目的 肾上腺脑白质营养不良 (ALD)是一种罕见的极长链脂肪酸氧化障碍而导致的X染色体隐性遗传疾患 ,作者系统分析了 8例确诊病例 ,以深入认识此病的临床特点及诊治新进展。方法 病例均由北京协和医院确诊 ,血、尿游离皮质醇、血促肾上腺皮质激素 (ACTH)及极长链脂肪酸 (C2 4∶0 /C2 2∶0和C2 6∶0 /C2 2∶0 )均采用放射免疫法测定。结果 患者均为男性儿童或青少年 ,平均起病年龄 (9 0± 4 0 )岁 (1～ 16岁 ) ,主要临床表现为原发性肾上腺皮质功能减退和神经系统功能异常。血、尿游离皮质醇浓度降低 ,为 (115 4± 98 1)nmol/L和小于 0 72nmoL/d。血ACTH水平升高 ,达 (1137 1± 5 73 9)ng/L ,表明肾上腺皮质功能减退。C2 4∶0 /C2 2∶0和C2 6∶0 /C2 2∶0值升高 ,分别为 (1 9± 0 6 )和 (0 0 37± 0 0 2 0 )。影像学示脑白质脱髓鞘样改变。结论 典型的肾上腺皮质功能低减及神经系统受累表现、内分泌功能检查、极长链脂肪酸测定和特征性影像学表现是诊断ALD的主要依据
Purpose Adrenoleukodystrophy (ALD) is a rare X-linked chromosomal recessive disorder caused by very long-chain fatty acid oxidation disorder. The authors systematically analyzed 8 cases of confirmed cases to understand the clinical features and diagnosis and treatment of the disease progress. Methods All cases were diagnosed by Peking Union Medical College Hospital. Blood and urine free cortisol, ACTH and C2C (C2 4:0 / C2 2:0 and C2 6:0 / C2 2:0) All were measured by radioimmunoassay. Results All patients were male children or adolescents. The average age of onset was (90 ± 40) years (range, 1 to 16 years). The main clinical manifestations were primary adrenocortical hypofunction and nervous system dysfunction. Serum and urinary free cortisol levels were reduced to (115 4 ± 98 1) nmol / L and less than 0 72 nmoL / d. Blood ACTH levels increased (1137 1 ± 5 73 9) ng / L, indicating a decrease in adrenocortical function. C2 4: 0 / C2 2: 0 and C2 6: 0 / C2 2: 0 values increased by (1 9 ± 0 6) and 0 0 37 ± 0 0 0 2 0, respectively. Imaging studies showed white matter demyelination-like changes. Conclusions Typical adrenocortical hypofunction and neurological involvement, endocrine function tests, extremely long chain fatty acid test and characteristic imaging findings are the main basis for the diagnosis of ALD