Pediatric Nephrology

, Volume 22, Issue 7, pp 975–980

OCRL1 mutations in patients with Dent disease phenotype in Japan

Authors

    • Department of PediatricsGraduate School of Medicine,The University of Tokyo
    • Department of PediatricsFaculty of Medicine, The University of Tokyo
  • Kandai Nozu
    • Department of PediatricsKobe University Graduate School of Medicine
  • Rashmi Iyengar
    • Department of PediatricsGraduate School of Medicine,The University of Tokyo
  • Xue Jun Fu
    • Department of PediatricsKobe University Graduate School of Medicine
  • Masafumi Matsuo
    • Department of PediatricsKobe University Graduate School of Medicine
  • Ryojiro Tanaka
    • Division of NephrologyHyogo Prefectural Children’s Hospital
  • Kazumoto Iijima
    • Department of NephrologyNational Center for Child Health and Development
  • Emiko Matsui
    • Department of PediatricsGraduate School of Medicine,The University of Tokyo
  • Yutaka Harita
    • Department of PediatricsGraduate School of Medicine,The University of Tokyo
  • Jun Inatomi
    • Department of PediatricsGraduate School of Medicine,The University of Tokyo
  • Takashi Igarashi
    • Department of PediatricsGraduate School of Medicine,The University of Tokyo
Original Article

DOI: 10.1007/s00467-007-0454-x

Cite this article as:
Sekine, T., Nozu, K., Iyengar, R. et al. Pediatr Nephrol (2007) 22: 975. doi:10.1007/s00467-007-0454-x

Abstract

Three distinct OCRL1 mutations in three patients with the Dent disease phenotype are described. All the patients manifested an extremely high degree of low-molecular-weight proteinuria and showed no ocular abnormalities or apparent mental retardation. Urinalysis and blood chemistry showed no findings suggestive of Fanconi syndrome with renal tubular acidosis. Mutations in CLCN5 were ruled out. The mutations identified in OCRL1 are one frame-shift mutation (I127stop) and two missense mutations (R301C and R476W). R301C and R476W mutations might be hot spots in OCRL1, which develop very similar phenotypes as Dent-2.

Keywords

Dent disease Lowe syndrome OCRL1 CLCN5

Abbreviations

β2MG

β2 microglobulin

TPR

tubular reabsorption of inorganic phosphate

FEK

fractional excretion of potassium

IP

inorganic phosphate

Copyright information

© IPNA 2007