title: [Clinical and genetic analysis of Dent disease in 4 Chinese children].
abstract: OBJECTIVE
  To study the clinical features and gene mutations of 4 Chinese children with Dent disease.
  
  
  METHODS
  The clinical and laboratory data of 4 children with Dent disease were analyzed retrospectively. Genetic testing of the 4 cases was carried out.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Pediatrics, Peking Union Medical College Hospital, Beijing 100730, China. pumch_wm@126.com.
authors.forename: Shan
authors.initials: S
authors.lastname: Jian
authors.forename: Min
authors.initials: M
authors.lastname: Wei
authors.forename: Yan-Yan
authors.initials: YY
authors.lastname: He
authors.forename: Wei
authors.initials: W
authors.lastname: Wang
authors.forename: Yu-Lin
authors.initials: YL
authors.lastname: Kang
authors.forename: Zhi-Xing
authors.initials: ZX
authors.lastname: Sun
mesh_terms: D002648:Child; D002675:Child, Preschool; D018118:Chloride Channels / Q000235:genetics; D057973:Dent Disease / Q000188:drug therapy / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics
chemical_list: C097503:CLC-5 chloride channel; D018118:Chloride Channels; D010744:Phosphoric Monoester Hydrolases; C075695:OCRL protein, human