Abstract：
Nephrotic syndrome is a common condition characterized by filtration of large amounts of protein, hypoalbuminemia, reduced plasma oncotic pressure, sodium retention, and edema. The mechanism responsible for sodium retention in this condition is still controversial. Two different pathophysiological pathways have been proposed to explain edema formation: activation of neurohumoral effector mechanisms, including the renin-angiotensin-aldosterone system, or abnormal intrinsic/primary renal sodium retention. A 5-year-old boy with X-linked adrenoleukodystrophy presented with bilateral leg swelling, massive proteinuria, and hypoalbuminemia. Minimal change disease was diagnosed. The patient was initially treated with corticosteroids and experienced several relapses. The progression of fractional excretion of sodium correlated with proteinuria and undetectable aldosterone levels. This unusual finding suggests that the mechanism of tubular sodium avidity in this child with mineralocorticoid insufficiency was independent of the renin-angiotensin-aldosterone system.
摘要：
肾病综合征是一种常见的疾病，其特征是过滤大量的蛋白质，低蛋白血症,降低了等离子体渗透压，钠潴留，和水肿。在这种情况下，钠潴留的机制仍然存在争议。已经提出了两种不同的病理生理学途径来解释水肿的形成：神经体液效应机制的激活，包括肾素-血管紧张素-醛固酮系统，或异常的内在/原发性肾钠潴留。一名患有X连锁肾上腺脑白质营养不良的5岁男孩，表现为双侧腿部肿胀，大量蛋白尿，和低蛋白血症.诊断出微小变化的疾病。患者最初接受皮质类固醇治疗，并经历了几次复发。钠排泄分数的进展与蛋白尿和未检测到的醛固酮水平相关。这一不寻常的发现表明，在患有盐皮质激素功能不全的儿童中，肾小管钠亲和力的机制与肾素-血管紧张素-醛固酮系统无关。
