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HOSHINO Junichi
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Position Professor and Division head |
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| Article types | Original article |
| Language | English |
| Peer review | Non peer reviewed |
| Title | Autosomal Dominant Tubulointerstitial Kidney Disease HNF1B With Maturity-Onset Diabetes of the Young: A Case Report With Kidney Biopsy. |
| Journal | Formal name：Kidney medicine Abbreviation：Kidney Med ISSN code：25900595/25900595 |
| Domestic / Foregin | Foregin |
| Volume, Issue, Page | 3(2),pp.278-281 |
| Author and coauthor | Oba Yuki, Sawa Naoki, Mizuno Hiroki, Hoshino Junichi, Kinowaki Keiichi, Ohashi Kenichi, Morisada Naoya, Iijima Kazumoto, Yamaguchi Yutaka, Ubara Yoshifumi |
| Publication date | 2020/12/26 |
| Summary | 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 |