Dent disease in childhood and associated clinical problems
10.3760/cma.j.issn.2095-428X.2018.17.001
- VernacularTitle:儿童Dent病及临床相关问题
- Author:
Yong YAO
1
Author Information
1. 100034,北京大学第一医院儿科
- Keywords:
Dent disease;
Low molecular weight proteinuria;
Hypercalciuria;
CLCN5 gene;
OCRL1 gene
- From:
Chinese Journal of Applied Clinical Pediatrics
2018;33(17):1281-1286
- CountryChina
- Language:Chinese
-
Abstract:
Dent disease is a rare X-linked tubulopathy characterized by low molecular weight proteinuria (LMWP),hypercalciuria,nephrocalcinosis and/or nephrolithiasis,renal dysfunction and variable manifestations of other proximal tubule dysfunctions.The gene of Dent disease is now known that Dent disease Ⅰ is caused by mutations of the CLCN5 gene,coding for the ClC-5;and Dent disease Ⅱ by mutations of the OCRL gene,coding for the inositol polyphosphate 5-phosphatase OCRL-1.The pathological manifestations of Dent's kidney are often focal segmental sclerosis(FSGS),mesangial proliferative glomerulonephritis(MsPGN) and minimal change(MCD).Dent disease could progresses to chronic renal failure over 3 to 4 decades.As key point,the LMWP of Dent disease in childhood often express as nephrotic-range proteinuria with normal serum albumin,the differentiation with nephrotic syndrome in clinic.When a boy accompany with LMWP and hypercalciuria or nephrocalcinosis,he should be examined for CLCN5 and OCRL1 gene tests to avoid misdiagnosis and missed diagnosis of Dent disease.
