LONG-TERM TREATMENT OF CEREBROTENDINOUS XANTHOMATOSIS WITH CHENODEOXYCHOLIC ACID
LONG-TERM TREATMENT OF CEREBROTENDINOUS XANTHOMATOSIS WITH CHENODEOXYCHOLIC ACID
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DOI：
10.1056/nejm198412273112601
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发表时间：
1984-01-01
影响因子：
158.5
通讯作者：
SHEFER, S
中科院分区：
文献类型：
--
作者：
BERGINER, VM;SALEN, G;SHEFER, S
本文报告鹅去氧胆酸治疗17例腱性黄瘤病的疗效。在治疗前，所有受试者都有症状，有跟腱黄色瘤（15/17），白内障（12/17），痴呆（13/17），尿道体征（共17例），小脑功能障碍（13/17），轻度周围神经病变EEG异常（10/13）和脑CT扫描异常（10/12）。经过至少1年的鹅去氧胆酸治疗（750 mg/天），10名受试者的痴呆症状消失，5名受试者的锥体和小脑体征消失，另外8名受试者的症状改善。6例患者周围神经病变消失。5例脑电图恢复正常，3例异常较少。7例患者的脑部计算机轴向断层扫描改善;变化包括1例小脑黄色瘤消失。同时，平均血浆胆固醇水平下降3倍，异常胆汁酸合成受到抑制。鹅去氧胆酸的长期治疗可能纠正生化异常，阻止并可能逆转无腱性黄瘤病的进展。
The effect of chenodeoxycholic acid was studied in 17 patients with cerebrotendinous xanthomatosis. Before treatment, all subjects were symptomatic, with Achilles tendon xanthomas (in 15 of 17), cataracts (in 12 of 17), dementia (in 13 of 17), pyramidal-tract signs (in all 17), cerebellar dysfunction (in 13 of 17), mild peripheral neuropathy (in 7 of 17), EEG abnormalities (in 10 of 13) and abnormal cerebral computerized axial tomographic scans (in 10 of 12). After at least 1 yr of chenodeoxycholic acid treatment (750 mg/day), dementia cleared in 10 subjects and pyramidal and cerebellar signs disappeared in 5 and improved in another 8. Peripheral neuropathy was no longer detected in 6. The EEG became normal in 5 and showed fewer abnormalities in another 3 subjects. Cerebral computerized axial tomographic scans improved in 7 patients; the changes included the disappearance of a cerebellar xanthoma in 1 case. Concomitantly mean plasma cholestanol levels declined 3-fold and abnormal bile acid synthesis was suppressed. Long-term therapy with chenodeoxycholic acid may correct the biochemical abnormalities and arrest and possibly reverse the progression of cerebrotendinuous xanthomatosis.