Department of Pediatrics, VU University Medical Center, Amsterdam, The Netherlands.
Nephron Physiol. 2011;118(1):p1-6. doi: 10.1159/000320880. Epub 2010 Nov 11.
Following glomerular filtration, the bulk of solutes are reabsorbed in the proximal tubule to prevent excessive losses of vital metabolites. In this nephron segment, reabsorption is largely active via dedicated transporters. Hereditary defects in proximal tubular function are characterized by malabsorption affecting amino acids, glucose, potassium, phosphate, bicarbonate, low-molecular-weight proteins and other solutes handled by this nephron segment. Dysfunction may be isolated or generalized (Fanconi syndrome). Defects in specific transporters lead to increased urinary excretion of substrates, which are often diagnostic. In others, extrarenal gene expression causes a multisystem phenotype. In this review, we will give a short overview of the molecular genetics, clinical picture, pathophysiology and treatment of genetically defined proximal tubulopathies.
肾小球滤过后，大部分溶质在近端肾小管中被重吸收，以防止重要代谢物的过度丢失。在这个肾单位中，重吸收主要通过专门的转运体进行主动转运。近端肾小管功能的遗传性缺陷表现为吸收不良，影响氨基酸、葡萄糖、钾、磷、碳酸氢盐、低分子量蛋白质和其他由该肾单位处理的溶质。功能障碍可能是孤立的或全身性的（范可尼综合征）。特定转运体的缺陷导致底物的尿排泄增加，这通常具有诊断意义。在其他情况下，肾外基因表达导致多系统表型。在这篇综述中，我们将简要概述遗传定义的近端肾小管病的分子遗传学、临床表现、病理生理学和治疗。
