論文種別	原著(症例報告除く)
言語種別	英語
査読の有無	その他(不明)
表題	Investigation of clinical and genetic characteristics of Alport syndrome using a national registry in Japan (JP-ALPS).
掲載誌名	正式名：Clinical and experimental nephrology 略　 称：Clin Exp Nephrol ISSNコード：14377799/13421751
掲載区分	国外
巻・号・頁	pp.Online ahead of print
著者・共著者	Yusuke Okuda, Naoaki Mikami, Riku Hamada, Hiroshi Hataya, Kazuki Tanaka, Chikako Terano, Naoya Fujita, Kenichiro Miura, Kiyonobu Ishizuka, Yoko Shirai, Koichi Kamei, Masao Ogura, Takayuki Okamoto, Ryota Suzuki, Shunsuke Shinozuka, Yuko Shima, Masafumi Oka, Wataru Shimabukuro, Hiroyasu Tsukaguchi, Tetsuji Inagaki, Kei Nishiyama, Taeko Hashimoto, Naoko Ito, Tomohiko Yamamura, Tomoko Horinouchi, Kenji Ishikura, Koichi Nakanishi, Kandai Nozu
発行年月	2025/09
概要	BACKGROUND:Comprehensive epidemiological information regarding Alport syndrome, particularly from national cohorts, is limited.METHODS:Utilizing a national Alport syndrome cohort in Japan established in October 2022, we analyzed clinical characteristics according to genotype. Only baseline data collected retrospectively at enrollment were used. We present longitudinal trends in estimated glomerular filtration rate (eGFR) and urine protein-to-creatinine ratio.RESULTS:Of the 121 patients included, 105 (86.8%) underwent genetic testing and 82 (67.8%) had a kidney biopsy. Among those with genetic testing, 77 (73.3%) had X-linked Alport syndrome. Kidney function was normal at disease onset, with a median eGFR of 112.9 (interquartile range, 99.3-131.1) mL/min/1.73 m2. Although a steep decline during adolescence was observed in some male patients with X-linked Alport syndrome, eGFR decline was relatively slow during childhood and adolescence; the point estimate of eGFR at age 20 was 88.6 mL/min/1.73 m2. Six patients transitioned to end-stage kidney disease during the follow-up period. Eighty-one patients (66.9%) used renin-angiotensin system (RAS) inhibitors, and the rate of eGFR decline was slower after RAS inhibitor initiation. Notably, the median ages at onset and diagnosis were 3.0 and 5.1 years, respectively, because Japan's widespread urinalysis screening program for 3-year-old children enables initiation of early treatment.CONCLUSIONS:In our cohort, which consisted mainly of patients who did not require kidney replacement therapy in childhood and adolescence, kidney function was preserved throughout this period except for some male patients with X-linked Alport syndrome. RAS inhibitor use may be associated with a reduced rate of eGFR decline.
DOI	10.1007/s10157-025-02758-w
PMID	40971131