Gill Jasmeet, Wiederkehr Michael R
Baylor University Medical Center, Division of Nephrology, Department of Internal Medicine, and.
Texas A&M Health Science Center College of Medicine, Dallas Campus, Dallas, TX, USA.
Clin Nephrol Case Stud. 2020 Nov 3;8:85-90. doi: 10.5414/CNCS110198. eCollection 2020.
Dent disease is an inherited proximal renal tubulopathy leading to low molecular weight proteinuria, hypercalciuria with nephrocalcinosis and nephrolithiasis, and progressive renal failure. Two genetic mutations have been identified. The disease usually presents in childhood or early adult life and may be associated with other proximal tubular defects, which can lead to significant morbidity, especially in children. The disorder can extend to interstitial and glomerular cells, which contributes to progression to end-stage kidney disease. The pathophysiologic process remains incompletely understood, and no specific treatment is available. Dent disease is likely under-recognized. It needs to be included in the differential, especially in young males, presenting with recurrent kidney stones, proteinuria, and impaired renal function.
丹特病是一种遗传性近端肾小管病，可导致低分子量蛋白尿、伴有肾钙质沉着症和肾结石的高钙尿症以及进行性肾衰竭。已鉴定出两种基因突变。该病通常在儿童期或成年早期出现，可能与其他近端肾小管缺陷有关，这可能导致严重的发病情况，尤其是在儿童中。该疾病可扩展至间质细胞和肾小球细胞，这促使疾病进展至终末期肾病。病理生理过程仍未完全明确，且尚无特效治疗方法。丹特病可能未得到充分认识。在鉴别诊断中需要考虑到该病，尤其是对于出现复发性肾结石、蛋白尿和肾功能受损的年轻男性。
