A rare case of nephrotic syndrome associated with Dent's disease: a case report.

ABSTRACT: Dent's disease is a rare X-linked condition caused by a mutation in CLCN5 and OCRL gene, which impair the megalin-cubilin receptor-mediated endocytosis in kidney's proximal tubules. Thus, it may manifest as nephrotic-range low-molecular-weight proteinuria (LMWP). On the other hand, glomerular proteinuria, hypoalbuminemia, and edema formation are the key features of nephrotic syndrome that rarely found in Dent's disease. Here, we reported a man in his 30 s with Dent's disease presented with leg edema for 5 days. The laboratory results revealed hypoalbuminemia and a decrease of urine β2-microglobulin/urine protein ratio (Uβ2-MG /UP), indicating that the primary origin of proteinuria shifted from LMWP to glomerular proteins. The kidney biopsy revealed glomerular abnormality and calcium deposi

SUBMITTER: Makino S 

PROVIDER: S-EPMC7502094 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature