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伴有甲状旁腺功能减退的卡恩斯-塞尔综合征

Kearns-Sayre syndrome with hypoparathyroidism.

作者信息

Horwitz S J, Roessmann U

出版信息

Ann Neurol. 1978 Jun;3(6):513-8. doi: 10.1002/ana.410030611.

DOI:10.1002/ana.410030611
PMID:677816
Abstract

The history, clinical findings, and postmortem examination of a patient with Kearns-Sayre syndrome are presented. In addition to the usuual symptoms, the patient also had hypoparathyroidism. There is increasing evidence that the syndrome is frequently associated with involvement ofthe endocrine system. Central nervous system involvement consists of a spongy encephalopathy.

摘要

本文介绍了一名患有卡恩斯-塞尔综合征患者的病史、临床检查结果及尸检情况。除了常见症状外,该患者还患有甲状旁腺功能减退症。越来越多的证据表明,该综合征常与内分泌系统受累有关。中枢神经系统受累表现为海绵状脑病。

相似文献

1
Kearns-Sayre syndrome with hypoparathyroidism.伴有甲状旁腺功能减退的卡恩斯-塞尔综合征
Ann Neurol. 1978 Jun;3(6):513-8. doi: 10.1002/ana.410030611.
2
Kearns-Sayre syndrome and hypoparathyroidism.卡恩斯-塞尔综合征与甲状旁腺功能减退症。
Ann Neurol. 1978 May;3(5):455-8. doi: 10.1002/ana.410030519.
3
[Kearns and Sayre syndrome with hypoparathyroidism and diabetes (author's transl)].伴有甲状旁腺功能减退症和糖尿病的卡恩斯-塞尔综合征(作者译)
Sem Hop. 1981;57(5-6):296-301.
4
[Kearns syndrome. Progressive external ophthalmoplegia, retinal pigment degeneration and heart conduction disorders].[卡恩斯综合征。进行性眼外肌麻痹、视网膜色素变性和心脏传导障碍]
Schweiz Med Wochenschr. 1977 Dec 17;107(50):1880-8.
5
A case of Kearns-Sayre sindrome with autoimmune thyroiditis and complete atrio-ventricular block.一例伴有自身免疫性甲状腺炎和完全性房室传导阻滞的凯-赛综合征
Minerva Cardioangiol. 2006 Jun;54(3):387-91.
6
Basal ganglia calcification in Kearns-Sayre syndrome.卡恩斯-塞尔综合征中的基底节钙化
Arch Neurol. 1979 Nov;36(11):711-3. doi: 10.1001/archneur.1979.00500470081017.
7
[Concordance of Kearns-Sayre syndrome and Klinefelter syndrome].
Monatsschr Kinderheilkd. 1988 Oct;136(10):698-700.
8
[A case of Kearns-Sayre like syndrome associated with rimmed vacuoles].[一例与镶边空泡相关的类凯-赛综合征病例]
Rinsho Shinkeigaku. 1982 Nov;22(11):1015-20.
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[Atrioventricular block in Kearns-Sayre syndrome].[卡恩斯-塞尔综合征中的房室传导阻滞]
Rev Esp Cardiol. 1990 Mar;43(3):192-4.
10
A case of Kearns-Sayre syndrome with autoimmune thyroiditis and possible Hashimoto encephalopathy.一例伴有自身免疫性甲状腺炎及可能的桥本脑病的凯-赛综合征病例。
Panminerva Med. 2002 Sep;44(3):265-9.

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Mitochondrial disease and endocrine dysfunction.线粒体疾病与内分泌功能紊乱。
Nat Rev Endocrinol. 2017 Feb;13(2):92-104. doi: 10.1038/nrendo.2016.151. Epub 2016 Oct 7.
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Endocrine disorders in mitochondrial disease.线粒体疾病中的内分泌紊乱。
Mol Cell Endocrinol. 2013 Oct 15;379(1-2):2-11. doi: 10.1016/j.mce.2013.06.004. Epub 2013 Jun 13.
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Clinical, morphological, biochemical, and neuroradiological features of mitochondrial encephalomyopathies. Presentation of 19 patients.线粒体脑肌病的临床、形态学、生化及神经放射学特征。19例患者的病例报告
Mol Cell Biochem. 1997 Sep;174(1-2):297-303.
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Pernicious anaemia and hypoparathyroidism in a patient with Kearns-Sayre syndrome with mitochondrial DNA duplication.
J Inherit Metab Dis. 1996;19(2):109-11. doi: 10.1007/BF01799405.
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MRI in a case of Kearns-Sayre syndrome confirmed by molecular analysis.经分子分析确诊的凯-赛综合征病例的磁共振成像
Neuroradiology. 1994;36(1):37-8. doi: 10.1007/BF00599193.