Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients.
Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients.
复制标题
用肠外组氨酸铜早期治疗门克斯病：对四名治疗患者的长期随访。
DOI：
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复制
发表时间：
1998
期刊：
影响因子：
--
通讯作者：
Joe T.R. Clarke
中科院分区：
文献类型：
--
作者：
J. Christodoulou;David M. Danks;Bibudhendra Sarkar;Kurt Baerlocher;Robin Casey;Nina Horn;Zeynep Tümer;Joe T.R. Clarke
我们报告了4例Menkes病男孩的长期临床病程，从婴儿早期开始使用肠外组氨酸铜治疗，随访超过10-20年。4例患者中有3例有男性亲属，其严重的临床病程与典型的门克斯病相符。由于早期治疗，我们的患者智力发育正常或接近正常，但发生了相关疾病枕角综合征的许多更严重的躯体异常，包括2例严重的直立性低血压。此外，1名男孩发生了之前未报告的异常，即脾动脉瘤导致的巨大脾肿大和脾功能亢进。先前报道的分子研究表明，在这些患者中的2个基因缺陷，这将预测一个截短的，可能是无功能的基因产物。尽管对神经系统症状有良好的效果，门克斯病的肠外铜治疗仍应被视为实验性的。开发更有效的治疗方法必须等待更精确地描述Menkes蛋白在细胞内铜转运中的作用。
We report on the long-term clinical course of 4 boys with Menkes disease, treated from early infancy with parenteral copper-histidine, with follow-up over 10-20 years. Three of the 4 had male relatives with a severe clinical course compatible with classical Menkes disease. As a consequence of early treatment, our patients have normal or near-normal intellectual development, but have developed many of the more severe somatic abnormalities of the related disorder, occipital horn syndrome, including severe orthostatic hypotension in 2. In addition, 1 boy developed a previously unreported anomaly, namely, massive splenomegaly and hypersplenism as a consequence of a splenic artery aneurysm. Previously reported molecular studies in 2 of these patients had shown gene defects which would have predicted a truncated and probably nonfunctional gene product. Despite the favorable effects on the neurological symptoms, parenteral copper treatment for Menkes disease should still be regarded as experimental. The development of more effective treatments must await a more precise delineation of the role which the Menkes protein plays in intracellular copper trafficking.
铜的运输。
DOI：
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发表时间：
1993
期刊：
Progress in clinical and biological research
影响因子：
--
作者：
Harris,ED
通讯作者：
Harris,ED
补充铜对斑纹小鼠大脑中铜浓度的影响。
DOI：
10.1042/bj2050485
发表时间：
1982
期刊：
The Biochemical journal
影响因子：
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作者：
Wenk,G;Suzuki,K
通讯作者：
Suzuki,K
影响因子：
9.8
作者：
S. Das;B. Levinson;S. Whitney;Chris D. Vulpe;Seymour Packman;J. Gitschier
通讯作者：
S. Das;B. Levinson;S. Whitney;Chris D. Vulpe;Seymour Packman;J. Gitschier