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[肾小管功能的探索]

[Exploration of renal tubular functions].

作者信息

Blanchard Anne, Poussou Rosa, Houillier Pascal

机构信息

Faculté de médecine, université Paris-Descartes, Paris, France.

出版信息

Nephrol Ther. 2009 Feb;5(1):68-83. doi: 10.1016/j.nephro.2008.03.004. Epub 2008 Jun 9.

Abstract

The vital role of the kidneys is closely related to their interior homeostatic function that provides a protection to the cells regarding the consequences of environmental variations of the organism. Any primary or secondary damage caused to the tubular functions may impair this homeostasis. Two indications justify an analysis of these functions: the search for and characterization of a primary defect of one or several tubular functions and the detection of early alterations of tubular functions in glomerular renal diseases. Following a brief overview of physiological aspects, the positive and aetiologic diagnosis of a tubular alteration is described, whatever the way the disorder have been detected, aetiologic analysis of a metabolic disorder or specific screening using a dynamic test. Main criteria used to determine the renal or extrarenal origin of the metabolic disorders are reviewed. General principles are described, together with the indication and interpretation of the most current investigation procedures for proximal tubular reabsorption (calculation or measurement of bicarbonate, phosphate, or glucose Tm), distal NaCl reabsorption (response to diuretics, hypotonic saline load test), concentration/dilution (dDAVP water restriction test, water load test) or distal urinary acidification (acid load, bicarbonate load, furosemide test). Last, as a conclusion, we highlight the possibility of performing routinely genetic diagnosis of most hereditary tubular diseases (Bartter/Gitelman syndrome, nephrogenic diabetes insipidus, distal tubular acidosis, and Lowe and Dent syndromes).

摘要

肾脏的重要作用与其内在的稳态功能密切相关,这种功能可保护细胞免受机体环境变化的影响。肾小管功能受到的任何原发性或继发性损害都可能破坏这种稳态。对这些功能进行分析有两个目的:寻找并确定一种或几种肾小管功能的原发性缺陷,以及检测肾小球性肾脏疾病中肾小管功能的早期改变。在简要概述生理方面之后,将描述肾小管改变的阳性诊断和病因诊断,无论疾病是如何被检测到的,无论是代谢紊乱的病因分析还是使用动态试验进行的特异性筛查。本文回顾了用于确定代谢紊乱的肾脏或肾外起源的主要标准。文中描述了一般原则,以及目前用于近端肾小管重吸收(碳酸氢盐、磷酸盐或葡萄糖Tm的计算或测量)远端NaCl重吸收(对利尿剂的反应、低渗盐水负荷试验)、浓缩/稀释(去氨加压素禁水试验、水负荷试验)或远端尿液酸化(酸负荷、碳酸氢盐负荷、速尿试验)的最新检查程序的适应证和解读。最后,作为结论,我们强调了对大多数遗传性肾小管疾病(巴特综合征/吉特曼综合征、肾性尿崩症、远端肾小管酸中毒以及洛氏综合征和登特综合征)进行常规基因诊断的可能性。

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