Article
Any modality of renal replacement therapy can be a treatment option for Joubert syndrome.
Scientific reports - 11 Jan 2021
Takagi Yoko, Miura Kenichiro, Yabuuchi Tomoo, Kaneko Naoto, Ishizuka Kiyonobu, Takei Mariko, Yajima Chikage, Ikeuchi Yuka, Kobayashi Yasuko, Takizawa Takumi, Hisano Masataka, Tsurusaki Yoshinori, Matsumoto Naomichi, Hattori Motoshi
Abstract excerpt
Joubert syndrome (JS) is an inherited ciliopathy characterized by a distinctive cerebellar and brain stem malformation which is known as the "molar tooth sign" on axial brain images, hypotonia, and developmental delay. Approximately 25-30% of patients with JS have kidney disease and many of them progress to end-stage kidney disease (ESKD). However, there are few reports on the outcomes of renal replacement...
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