Pediatric Nephrology

, Volume 23, Issue 2, pp 243–249 | Cite as

Renal manifestations of Dent disease and Lowe syndrome

  • Hee Yeon Cho
  • Bum Hee Lee
  • Hyun Jin Choi
  • Il Soo Ha
  • Yong Choi
  • Hae Il CheongEmail author
Original Article


To date, two responsible genes for the development of Dent disease have been identified: CLCN5 and OCRL1. In this study, genotype-phenotype correlations were studied in patients with Dent disease and those with Lowe syndrome. Among the 12 boys with a phenotype typical of Dent disease, nine had a mutation in CLCN5 (Dent disease 1), two had a mutation in OCRL1 (Dent disease 2), and one had no mutations in either gene. All seven boys with a clinical diagnosis of Lowe syndrome had a mutation in OCRL1. Patients with Lowe syndrome showed more frequent hypophosphatemia/rickets and more prominent tubular proteinuria than patients with Dent disease 1, and patients with Dent disease 2 had higher degree of tubular proteinuria and hypercalciuria than patients with Dent disease 1. Additionally, one patient with Dent disease 2 showed a mild degree of developmental delay, elevated serum muscle enzyme levels, and cryptorchidism. In this study, the genetic heterogeneity in Dent disease and the phenotypic heterogeneity in Lowe syndrome were confirmed. In patients with Dent disease, the presence of the above-mentioned extrarenal manifestations indicates that it is more likely that the patient is affected by Dent disease 2 than by Dent disease 1.


Dent disease Lowe syndrome CLCN5 gene OCRL1 gene Genetic heterogeneity 



This study was supported by a grant (04-2006-104-0) from Seoul National University Hospital.


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Copyright information

© IPNA 2007

Authors and Affiliations

  • Hee Yeon Cho
    • 1
  • Bum Hee Lee
    • 2
  • Hyun Jin Choi
    • 2
  • Il Soo Ha
    • 2
  • Yong Choi
    • 2
  • Hae Il Cheong
    • 2
    Email author
  1. 1.Department of PediatricsGachon University of Medicine and Science, Gil Medical CenterIncheonSouth Korea
  2. 2.Department of PediatricsSeoul National University Children’s HospitalSeoulSouth Korea

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