Sulistiyati Bayu Utami, Endang Mahati, Peili Li, Nani Maharani, Nobuhito Ikeda, Udin Bahrudin, Chishio Munemura, Makoto Hosoyamada, Yasutaka Yamamoto, Akio Yoshida, Yuji Nakayama, Katsumi Higaki, Eiji Nanba, Haruaki Ninomiya, Yasuaki Shirayoshi, Kimiyoshi Ichida, Kazuhiro Yamamoto, Tatsuo Hosoya, Ichiro Hisatome
BACKGROUND: Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal dominant disorder caused by mutations in UMOD that encodes uromodulin. Topiroxostat, a novel non-purine analog, selectively inhibits xanthine oxidase and reduces the serum uric acid levels and the urinary albuminuria. METHODS: Genomic DNA of a patient was extracted from peripheral white blood. Exons and flanking sequences of UMOD were amplified by PCR with primers. Mutation analysis was performed by direct sequencing of the PCR products...
August 2015: Clinical and Experimental Nephrology