Dent disease in childhood and associated clinical problems / 中华实用儿科临床杂志

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.

Diagnosis and treatment of 6 cases of Dent’s disease / 临床儿科杂志

Objective To explore the diagnosis and treatment of Dent’s disease.MethodsThe clinical characteristics, treatment process and disease-causing gene mutation were retrospectively analyzed in 6 pediatric patients with Dent’s disease misdiagnosed of nephritic syndrome from January 2014 to August 2015.ResultsIn these 6 male patients aged 4.5-9.8 years old, the main clinical manifestations were nephropathy-level of proteinuria and transient low serum albumin (26-30 g/L) without obvious edema or high serum cholesterol. In 4 patients who had renal biopsy, 2 cases showed mesangial proliferative glomerulonephritis and other 2 cases showed focal segmental glomerulosclerosis. All of 6 patients were treated with at least one immunosuppressive agent after resistance to full dose of hormone and no changes in proteinuria were observed. After admission, the indexes of early renal damage and urinary protein electrophoresis pointed to low-molecular proteinuria. The ratio of alpha 1 micro albumin (α1-MG) / micro albumin (MA) (the early renal damage index) was?>?1, there was hypercalciuria, and renal function was normal. The B ultrasonography showed renal calciifcation in 2 patients. The ifndings in all the patients were in accord with the clinical diagnosis of Dent’s disease. Further genetic analysis conifrmed the presence ofCLCN5 gene mutation in these 6 patients.ConclusionAs a type of rare inherited renal tubular disorder, Dent’s disease is easily misdiagnosed, to which pediatricians need to pay attention. The early renal damage index, α1-MG/MA?>?1, can be regarded as one of the diagnostic criteria of renal tubular proteinuria.