Nephrology Division, Department of Internal Medicine and Medical Specialties, Columbus-Gemelli University Hospital, Rome, Italy.
Curr Opin Nephrol Hypertens. 2013 Jul;22(4):421-6. doi: 10.1097/MNH.0b013e3283622b86.
After it was first described in 1939, medullary sponge kidney (MSK) received relatively little attention. This was because it was believed to have a low prevalence and because it was considered a benign condition. Studies in recent years have been changing these convictions however, hence the present review.
Insight has been obtained on the genetic basis of this disease, supporting the hypothesis that MSK is due to a disruption at the 'ureteric bud-metanephric mesenchyme' interface. This explains why so many tubular defects coexist in this disease, and particularly a distal tubular acidification defect of which the highly prevalent metabolic bone disease is one very important consequence. In addition to the typical clinical phenotype of recurrent stone disease, other clinical profiles have now been recognized, that is, an indolent, almost asymptomatic MSK, and a rare form characterized by intractable, excruciating pain.
Findings suggest the need for a more comprehensive clinical characterization of MSK patients. The genetic grounds for the condition warrant further investigation, and reliable methods are needed to diagnose MSK.
1939 年首次描述后，海绵肾（MSK）受到的关注相对较少。这是因为人们认为它的患病率较低，而且被认为是一种良性疾病。然而，近年来的研究改变了这些观念，因此有了本综述。
人们对这种疾病的遗传基础有了更深入的了解，这支持了 MSK 是由于“输尿管芽-后肾间充质”界面中断的假说。这解释了为什么这种疾病会同时存在如此多的管状缺陷，特别是远端管状酸化缺陷，而代谢性骨病是其非常重要的后果之一。除了复发性结石病的典型临床表型外，现在已经认识到其他临床表型，即隐匿性、几乎无症状的 MSK 和一种罕见形式，其特征是难以治疗、剧烈疼痛。
研究结果表明，需要对 MSK 患者进行更全面的临床特征描述。该疾病的遗传基础需要进一步研究，并且需要可靠的方法来诊断 MSK。
