Referenced in: none

Automatically associated channels: ClC4 , ClC5

Title: [Clinical and genetic analysis of Dent disease in 4 Chinese children].

Authors: Shan Jian, Min Wei, Yan-Yan He, Wei Wang, Yu-Lin Kang, Zhi-Xing Sun

Journal, date & volume: Zhongguo Dang Dai Er Ke Za Zhi, 2015 Dec , 17, 1261-6

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/26695661

Abstract
To study the clinical features and gene mutations of 4 Chinese children with Dent disease.The clinical and laboratory data of 4 children with Dent disease were analyzed retrospectively. Genetic testing of the 4 cases was carried out.All of 4 cases were boys. The first impression of Cases 1-3 was Fanconi syndrome. Proteinuria was presented as the first impression in Case 4. All 4 boys presented with low-molecular weight proteinuria (LMWP) and hypercalciuria, including 3 cases with hematuria, 1 case with kidney stones, 2 cases with nephrocalcinosis, 3 cases with hypophosphatemia, and 3 cases with rickets. Mutations of the CLCN5 gene were revealed in three patients (Cases 1, 2 and 4), including exon 6-7del, c.785_787de l(p.263del Leu) and c.1039 C>T (p.Arg347Term). The first two gene mutations had never reported before.Urine protein electrophoresis should be carried out for patients with proteinuria. Dent disease should be taken into consideration when patients with Fanconi syndrome have hypercalciuria, nephrocalcinosis or kindey stones. Genetic analyses are needed for a definite diagnosis.