ホシノ　ジユンイチ   Hoshino Jiyun'ichi   星野　純一    所属   医学部 医学科（東京女子医科大学病院）    職種   教授・基幹分野長
論文種別	原著
言語種別	英語
査読の有無	査読なし
表題	Autosomal Dominant Tubulointerstitial Kidney Disease HNF1B With Maturity-Onset Diabetes of the Young: A Case Report With Kidney Biopsy.
掲載誌名	正式名：Kidney medicine 略　 称：Kidney Med ISSNコード：25900595/25900595
掲載区分	国外
巻・号・頁	3(2),pp.278-281
著者・共著者	Oba Yuki, Sawa Naoki, Mizuno Hiroki, Hoshino Junichi, Kinowaki Keiichi, Ohashi Kenichi, Morisada Naoya, Iijima Kazumoto, Yamaguchi Yutaka, Ubara Yoshifumi
発行年月	2020/12/26
概要	Autosomal dominant tubulointerstitial kidney disease subtype hepatocyte nuclear factor 1β (ADTKD-HNF1B) is a hereditary disease caused by variants of HNF1B that is characterized by a family history of tubulointerstitial nephropathy with concomitant diabetes mellitus. We report on a Japanese man in his early 40s who had ADTKD-HNF1B diagnosed. He had a reduced glomerular filtration rate, borderline diabetes mellitus, multiple small cysts in his bilateral kidneys, and pancreatic hypoplasia. He also had a family history of diabetes and kidney cystic lesions. These phenotypes represent ADTKD-HNF1B and genetic analysis revealed a missense variant of HNF1B. Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in tubular cells, a novel finding.
DOI	10.1016/j.xkme.2020.10.007
PMID	33851123