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门克斯卷发综合征:这是一种可治疗的疾病吗?

Menkes kinky hair syndrome: Is it a treatable disorder?

作者信息

Garnica A D, Frias J L, Rennert O M

出版信息

Clin Genet. 1977 Feb;11(2):154-61. doi: 10.1111/j.1399-0004.1977.tb01294.x.

DOI:10.1111/j.1399-0004.1977.tb01294.x
PMID:189959
Abstract

A male infant with Menkes Kinky Hair Syndrome was treated with a 3-week course of cupric acetate infusions, which was terminated when he developed aminoaciduria. The lack of improvement seen in this infant is representative of the reported experience with parenteral copper therapy in this condition, and may be attributable to the presence of a clinically significant abnormality in copper metabolism in utero.

摘要

一名患有门克斯卷发综合征的男婴接受了为期3周的醋酸铜输注治疗,在出现氨基酸尿症时治疗终止。该婴儿未见病情改善,这代表了在这种情况下肠外铜治疗的报道经验,可能归因于子宫内铜代谢存在临床上显著的异常。

相似文献

1
Menkes kinky hair syndrome: Is it a treatable disorder?门克斯卷发综合征:这是一种可治疗的疾病吗?
Clin Genet. 1977 Feb;11(2):154-61. doi: 10.1111/j.1399-0004.1977.tb01294.x.
2
The failure of parenteral copper therapy in Menkes Kinky Hair syndrome.胃肠外铜疗法在门克斯卷发综合征中的失效情况。
Eur J Pediatr. 1984 Jun;142(2):98-102. doi: 10.1007/BF00445587.
3
Menkes' Kinky hair syndrome: studies of copper metabolism and long term copper therapy.门克斯卷发综合征:铜代谢及长期铜疗法研究
Pediatr Res. 1977 Jul;11(7):823-6. doi: 10.1203/00006450-197707000-00009.
4
Copper infusion therapy in Menkes syndrome.门克斯综合征的铜输注疗法。
J Med Assoc Thai. 1984 Aug;67(8):456-60.
5
Menkes's syndrome. Report of a patient treated from 21 days of age with parenteral copper.门克斯综合征。一名自21日龄起接受胃肠外铜治疗的患者报告。
Arch Dis Child. 1978 Dec;53(12):956-8. doi: 10.1136/adc.53.12.956.
6
Kinky hair disease with suspected pseudo-Bartter syndrome.
Brain Dev. 1985;7(4):454-5. doi: 10.1016/s0387-7604(85)80148-0.
7
Menkes' disease: long-term treatment with copper and D-penicillamine.门克斯病:铜和青霉胺的长期治疗
Eur J Pediatr. 1988 Aug;147(6):621-5. doi: 10.1007/BF00442477.
8
[Ineffective attempt at treatment of Menkes disease with copper and the value of the amniotic-cell labeled-copper incorporation test].[用铜治疗门克斯病的无效尝试及羊水细胞标记铜掺入试验的价值]
Riv Neurobiol. 1983 Jan-Mar;29(1):92-9.
9
Clinical and biochemical aspects of trichopoliodystrophy.毛发硫营养不良的临床和生化特征
Ann Neurol. 1979 Jan;5(1):65-71. doi: 10.1002/ana.410050110.
10
Failure of human milk therapy in Menkes' kinky hair disease.人乳疗法对门克斯卷发疾病治疗无效。
Am J Dis Child. 1979 Feb;133(2):218-9. doi: 10.1001/archpedi.1979.02130020110024.

引用本文的文献

1
In vitro assessment of the toxicity of metal compounds : IV. Disposition of metals in cells: Interactions with membranes, glutathione, metallothionein, and DNA.金属化合物的体外毒性评估:IV. 金属在细胞内的分布:与膜、谷胱甘肽、金属硫蛋白和 DNA 的相互作用。
Biol Trace Elem Res. 1984 Apr;6(2):139-58. doi: 10.1007/BF02916931.
2
Neonatal diagnosis and treatment of Menkes disease.门克斯病的新生儿诊断与治疗。
N Engl J Med. 2008 Feb 7;358(6):605-14. doi: 10.1056/NEJMoa070613.
3
Pathological structure of the kidney from adult mice with mosaic mutation.
具有镶嵌突变的成年小鼠肾脏的病理结构
J Inherit Metab Dis. 2002 Dec;25(8):647-59. doi: 10.1023/a:1022877130344.
4
[Trichopoliodystrophy or Menkes disease].毛发硫营养不良或门克斯病
Can Med Assoc J. 1980 Sep 20;123(6):490-7.
5
The failure of parenteral copper therapy in Menkes Kinky Hair syndrome.胃肠外铜疗法在门克斯卷发综合征中的失效情况。
Eur J Pediatr. 1984 Jun;142(2):98-102. doi: 10.1007/BF00445587.
6
Brindled mottled mouse: morphological changes of brain and visceral organs in hemizygous males following copper supplementation.花斑斑驳小鼠:补充铜后半合子雄性小鼠脑和内脏器官的形态学变化
Acta Neuropathol. 1981;55(4):251-5. doi: 10.1007/BF00690986.
7
Copper metabolism in mottled mouse mutants. The effect of copper therapy on lysyl oxidase activity in brindled (Mobr) mice.斑驳小鼠突变体中的铜代谢。铜疗法对花斑(Mobr)小鼠赖氨酰氧化酶活性的影响。
Biochem J. 1982 Feb 15;202(2):369-71. doi: 10.1042/bj2020369.
8
Genetic expression of Menkes disease in cultured astrocytes of the macular mouse.
J Inherit Metab Dis. 1991;14(6):896-901. doi: 10.1007/BF01800470.