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巴特综合征合并严重视网膜病变,在一名新生儿中表现为假性醛固酮减少症。

Bartter's syndrome associated with severe retinopathy and presenting as pseudohypoaldosteronism in a newborn.

作者信息

Eckhardt S, Dillon M J, Grant D B

机构信息

Great Ormond Street Hospital for Children NHS Trust, London, England.

出版信息

J R Soc Med. 1995 Dec;88(12):712p-3p.

Abstract

Various pathophysiological explanations for Bartter's syndrome have been put forward since the condition was first described in 1962. It is currently thought that reduced reabsorption of sodium chloride in the distal tubule of the loop of Henle and the collecting ducts leads to secondary hyperkaluria and hypokalaemic metabolic alkalosis. We describe a 9 1/2-year-old boy with Bartter's syndrome and severe retinopathy whose features may be those of a previously unrecognized disorder.

摘要

自1962年首次描述巴特综合征以来,人们已经提出了各种关于该病症的病理生理学解释。目前认为,亨氏袢远端小管和集合管中氯化钠重吸收减少会导致继发性高钾血症和低钾血症性代谢性碱中毒。我们描述了一名患有巴特综合征和严重视网膜病变的9岁半男孩,其特征可能属于一种此前未被认识的病症。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6da5/1295424/6092abbf51c7/jrsocmed00063-0055-a.jpg

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本文引用的文献

2
The pathogenetic spectrum of Bartter's syndrome.巴特综合征的发病机制谱。
Kidney Int. 1985 Jul;28(1):85-93. doi: 10.1038/ki.1985.123.
3
4
Erythrocyte sodium transport in Bartter's syndrome.
Acta Paediatr Scand. 1988 Nov;77(6):873-8. doi: 10.1111/j.1651-2227.1988.tb10771.x.

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