Clinical and genetic analysis of Dent' s disease in 6 Chinese children with low molecular weight proteinuria / 中华儿科杂志

ABSTRACT

<p><b>OBJECTIVE</b>To analyze the clinical features and gene mutations of 6 Chinese children with Dent's disease.</p><p><b>METHOD</b>The clinical and laboratory data of 6 children with Dent's disease were summarized. CLCN5 gene was analyzed using PCR amplification and DNA sequencing.</p><p><b>RESULT</b>All the six patients presented with low molecular weight proteinuria and hypercalciuria, including 3/6 hematuria, 4/6 nephrocalcinosis, 3/6 hypophosphatemia, 1/6 rickets. Six mutations of the CLCN5 gene were revealed, including L594fsX595, R637X, R467X, IVS4-2A > G, S244L and V505G. The mutation L594fsX595, IVS4-2A > G and V505G was never reported before.</p><p><b>CONCLUSION</b>Low molecular weight proteinuria and hypercalciuria were the main clinical features of the six Chinese boys with Dent's disease. Dent's disease could be associated with a Bartter-like syndrome, which make the gene diagnosis more important.</p>