Referenced in: none

Automatically associated channels: ClC4 , ClC5

Title: [Clinical and genetic analysis of Dent' s disease in 6 Chinese children with low molecular weight proteinuria].

Authors: Bi-zhen Zhu, Peng Li, Jian-Ping Huang

Journal, date & volume: Zhonghua Er Ke Za Zhi, 2010 May , 48, 329-33

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/20654030

Abstract
To analyze the clinical features and gene mutations of 6 Chinese children with Dent's disease.The clinical and laboratory data of 6 children with Dent's disease were summarized. CLCN5 gene was analyzed using PCR amplification and DNA sequencing.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.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.