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  • Title: [Clinical and genetic analysis of Dent' s disease in 6 Chinese children with low molecular weight proteinuria].
    Author: Zhu BZ, Li P, Huang JP.
    Journal: Zhonghua Er Ke Za Zhi; 2010 May; 48(5):329-33. PubMed ID: 20654030.
    Abstract:
    OBJECTIVE: To analyze the clinical features and gene mutations of 6 Chinese children with Dent's disease. METHOD: The clinical and laboratory data of 6 children with Dent's disease were summarized. CLCN5 gene was analyzed using PCR amplification and DNA sequencing. RESULT: 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. CONCLUSION: 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.
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