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 ß2-microglobulin/urine protein ratio (Uß2-MG /UP), indicating that the primary origin of proteinuria shifted from LMWP to glomerular proteins. The kidney biopsy revealed glomerular abnormality and calcium deposition in the renal medulla. Electron microscopy of the kidney tissue indicated extensive foot-process effacement of the glomerular podocytes and degeneration of tubular epithelium. After a combination of treatment with prednisolone and cyclosporine (CyA), the nephrotic syndrome was remitted. Given the atypical clinical presentation and the shift of LMWP to glomerular proteinuria in this patient, glomerulopathy and the Dent's disease existed separately in this patient.