Pediatric Nephrology

, Volume 22, Issue 7, pp 975–980

OCRL1 mutations in patients with Dent disease phenotype in Japan

  • Takashi Sekine
  • Kandai Nozu
  • Rashmi Iyengar
  • Xue Jun Fu
  • Masafumi Matsuo
  • Ryojiro Tanaka
  • Kazumoto Iijima
  • Emiko Matsui
  • Yutaka Harita
  • Jun Inatomi
  • Takashi Igarashi
Original Article

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

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Copyright information

© IPNA 2007

Authors and Affiliations

  • Takashi Sekine
    • 1
    • 5
  • Kandai Nozu
    • 2
  • Rashmi Iyengar
    • 1
  • Xue Jun Fu
    • 2
  • Masafumi Matsuo
    • 2
  • Ryojiro Tanaka
    • 3
  • Kazumoto Iijima
    • 4
  • Emiko Matsui
    • 1
  • Yutaka Harita
    • 1
  • Jun Inatomi
    • 1
  • Takashi Igarashi
    • 1
  1. 1.Department of PediatricsGraduate School of Medicine,The University of TokyoTokyoJapan
  2. 2.Department of PediatricsKobe University Graduate School of MedicineHyogoJapan
  3. 3.Division of NephrologyHyogo Prefectural Children’s HospitalHyogoJapan
  4. 4.Department of NephrologyNational Center for Child Health and DevelopmentTokyoJapan
  5. 5.Department of PediatricsFaculty of Medicine, The University of TokyoTokyoJapan

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