title: Dent disease in children: diagnostic and therapeutic considerations.
abstract: BACKGROUND
  Dent disease (DD) is a rare X-linked tubulopathy characterized by a proximal tubular dysfunction leading to nephrocalcinosis/nephrolithiasis and progressive renal failure. The disease is associated with a mutation either in CLCN5 or OCRL genes. We aim to define clinical and genetic disease characteristics and summarize treatments of Polish patients with DD.
  
  
  METHODS
  The study cohort consists of 10 boys (aged 5 - 16.5 years) whose data were collected through POLtube Registry.
  
  
  RESULTS
  All of the patients had tubular proteinuria, hypercalciuria, and nephrocalcinosis/nephrolithiasis. Renal impairment and growth deficiency were found in 3 patients and rickets in 2 patients. In total, 9 of 10 patients carried a mutation in the CLCN5 gene. Five of 9 detected mutations were novel. In 1 patient with a clinical phenotype of DD, no mutations in either CLCN5 or OCRL were discovered. Therapy consisted of thiazides in 7 patients, and phosphate supplements and enalapril in 3 cases. Growth hormone therapy was initiated in 3 patients and resulted in improved growth rate.
  
  
  CONCLUSIONS
  We report clinical and molecular characterization of Polish children with DD. Our study suggests that this tubulopathy may be generally under-diagnosed in Poland. The study revealed variable treatments, demonstrating a need for therapeutic guidelines.
authors: Maria
authors: M
authors: Szczepanska
authors: Marcin
authors: M
authors: Zaniew
authors: Florian
authors: F
authors: Recker
authors: Malgorzata
authors: M
authors: Mizerska-Wasiak
authors: Iga
authors: I
authors: Zaluska-Lesniewska
authors: Katarzyna
authors: K
authors: Kilis-Pstrusinska
authors: Piotr
authors: P
authors: Adamczyk
authors: Jan
authors: J
authors: Zawadzki
authors: Krzysztof
authors: K
authors: Pawlaczyk
authors: Michael
authors: M
authors: Ludwig
authors: Przemyslaw
authors: P
authors: Sikora
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D057973:Dent Disease / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy*; D006801:Humans; D008297:Male