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婴幼儿及青少年糖皮质激素可抑制性醛固酮增多症的快速诊断

Rapid diagnosis of glucocorticoid suppressible hyperaldosteronism in infants and adolescents.

作者信息

Jamieson A, Inglis G C, Campbell M, Fraser R, Connell J M

机构信息

Department of Medicine and Therapeutics, Western Infirmary, Glasgow.

出版信息

Arch Dis Child. 1994 Jul;71(1):40-3. doi: 10.1136/adc.71.1.40.

DOI:10.1136/adc.71.1.40
PMID:7915100
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1029910/
Abstract

Glucocorticoid suppressible hyperaldosteronism (GSH) is an uncommon form of dominantly inherited hypertension. Presentation with hypertension and complications such as stroke in early life are well recognised. The use of a simple genetic test carried out on blood or placenta facilitates the detection of infants and children with GSH before the development of hypertension, allowing prompt treatment of hypertension if it occurs, and an opportunity to study the effects of growth and environmental influences on the progression of the condition.

摘要

糖皮质激素可抑制性醛固酮增多症(GSH)是一种罕见的常染色体显性遗传性高血压。早年出现高血压及中风等并发症的情况已广为人知。对血液或胎盘进行简单的基因检测有助于在高血压发生之前检测出患有GSH的婴幼儿,若高血压发生可及时进行治疗,同时也有机会研究生长和环境因素对该病进展的影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f14/1029910/4fd1e0e67112/archdisch00567-0049-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f14/1029910/4fd1e0e67112/archdisch00567-0049-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f14/1029910/4fd1e0e67112/archdisch00567-0049-a.jpg

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本文引用的文献

1
Glucocorticoid-suppressible hyperaldosteronism: from confusion to conclusion?
J Mol Endocrinol. 1993 Feb;10(1):3-5. doi: 10.1677/jme.0.0100003.
2
Dexamethasone suppressible hyperaldosteronism in a child with nephrosclerosis.一名患有肾硬化症儿童的地塞米松可抑制性醛固酮增多症
Acta Endocrinol (Copenh). 1982 Feb;99(2):251-5. doi: 10.1530/acta.0.0990251.
3
Dexamethasone-suppressible hyperaldosteronism. Adrenal transition cell hyperplasia?地塞米松可抑制性醛固酮增多症。肾上腺过渡细胞增生?
Hypertension. 1986 Aug;8(8):669-76. doi: 10.1161/01.hyp.8.8.669.
4
A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension.一种嵌合的11β-羟化酶/醛固酮合酶基因导致糖皮质激素可治性醛固酮增多症和人类高血压。
Nature. 1992 Jan 16;355(6357):262-5. doi: 10.1038/355262a0.
5
Glucocorticoid-remediable aldosteronism in a large kindred: clinical spectrum and diagnosis using a characteristic biochemical phenotype.一个大家族中的糖皮质激素可治性醛固酮增多症:临床谱及基于特征性生化表型的诊断
Ann Intern Med. 1992 May 15;116(10):813-20. doi: 10.7326/0003-4819-116-10-813.
6
Glucocorticoid-suppressible hyperaldosteronism results from hybrid genes created by unequal crossovers between CYP11B1 and CYP11B2.糖皮质激素可抑制性醛固酮增多症是由CYP11B1和CYP11B2之间不等交换产生的杂交基因所致。
Proc Natl Acad Sci U S A. 1992 Sep 1;89(17):8327-31. doi: 10.1073/pnas.89.17.8327.
7
Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase.嵌合基因重复和醛固酮合酶异位表达所致的遗传性高血压
Nat Genet. 1992 Sep;2(1):66-74. doi: 10.1038/ng0992-66.