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[巴特综合征和吉特林综合征的主要分子变化及继发生物学问题]

[Primary molecular changes and secondary biological problems in Bartter and Gitelman syndrome].

作者信息

Deschênes G, Feldmann D, Doucet A

机构信息

Service de néphrologie pédiatrique, hôpital Armand-Trousseau, 26, avenue du Docteur-Arnold-Netter, 75012 Paris, France.

出版信息

Arch Pediatr. 2002 Apr;9(4):406-16. doi: 10.1016/s0929-693x(01)00801-6.

Abstract

Bartter syndrome and Gitelman syndrome are primary hereditary diseases characterized by hypokaliemia, alkalosis, hypertrophy of the juxtaglomerular complex with secondary hyperaldoteronism and normal blood pressure. They result from molecular disorders leading to a defect of sodium reabsorption in respectively the Henle's loop and the distal convoluted tubule. Biological adaptations of downstream tubular segments, i.e. distal convoluted tubule and collecting duct, are responsible for hypokaliemia, alkalosis, renin-aldosterone activation, prostaglandins hypersecretion and dysregulation of the urinary excretion of calcium and magnesium, illustrating the close integration of the regulation of different solutes in the distal tubular structures.

摘要

巴特综合征和吉特林综合征是原发性遗传性疾病,其特征为低钾血症、碱中毒、肾小球旁复合体肥大伴继发性醛固酮增多症以及血压正常。它们是由分子紊乱导致分别在髓袢升支粗段和远曲小管中钠重吸收缺陷引起的。下游肾小管节段,即远曲小管和集合管的生物学适应性变化,导致了低钾血症、碱中毒、肾素 - 醛固酮激活、前列腺素分泌过多以及钙和镁尿排泄失调,这说明了远曲小管结构中不同溶质调节的紧密整合。

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