Article
Onset mechanism of a female patient with Dent disease 2.
Clinical and experimental nephrology - 1 Oct 2020
Okamoto Takayuki, Sakakibara Nana, Nozu Kandai, Takahashi Toshiyuki, Hayashi Asako, Sato Yasuyuki, Nagano China, Matsuo Masafumi, Iijima Kazumoto, Manabe Atsushi
Abstract excerpt
BACKGROUND: Approximately 15% of patients with Dent disease have pathogenic variants in the OCRL gene on Xq25-26, a condition that is referred to as Dent disease 2 (Dent-2). Dent-2 patients sometimes show mild extrarenal features of Lowe syndrome, such as mild mental retardation, suggesting that Dent-2 represents a mild form of Lowe syndrome. To date, eight female patients with Lowe syndrome have been reported,...
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