Article
OCRL1 mutations in patients with Dent disease phenotype in Japan.
Pediatric nephrology (Berlin, Germany) - 1 Jul 2007
Sekine Takashi, Nozu Kandai, Iyengar Rashmi, Fu Xue Jun, Matsuo Masafumi, Tanaka Ryojiro, Iijima Kazumoto, Matsui Emiko, Harita Yutaka, Inatomi Jun, Igarashi Takashi
Abstract excerpt
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...
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