肾单位
肾钙质沉着症
医学
肾
泌尿系统
高钙尿症
髓腔
肾小管酸中毒
胶质细胞源性神经生长因子
病理
肾结石
发病机制
内科学
解剖
神经营养因子
受体
酸中毒
作者
Antonia Fabris,Franca Anglani,Antonio Lupo,Giovanni Gambaro
摘要
Medullary sponge kidney (MSK) is a kidney malformation that generally manifests with nephrocalcinosis and recurrent renal stones; other signs may be renal acidification and concentration defects, and pre-calyceal duct ectasias. MSK is generally considered a sporadic disorder, but an apparently autosomal dominant inheritance has also been observed. As MSK reveals abnormalities in both the lower and the upper nephron and is often associated with urinary tract developmental anomalies, its pathogenesis should probably be sought in one of the numerous steps characterizing renal morphogenesis. Given the key role of the GDNF-RET interaction in kidney and urinary tract development and nephrogenesis, anomalies in these molecules are reasonable candidates for explaining a disorder such as MSK. As a matter of fact, we detected two, hitherto unknown, rare variants of the GDNF gene in MSK patients. We surmise that a defective distal acidification has a central role in MSK and is followed by a chain of events including defective bone mineralization, hypercalciuria, hypocitraturia and stone formation.
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