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The Varied Clinical Presentation of Autosomal Dominant Tubulointerstitial Kidney Disease Due to Mutations.

作者信息

Bleyer Anthony J, Kmoch Stanislav

机构信息

Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, NC, USA.

Research Unit of Rare Diseases, Department of Pediatric and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.

出版信息

Kidney Int Rep. 2020 Oct 21;5(12):2133-2135. doi: 10.1016/j.ekir.2020.10.008. eCollection 2020 Dec.

DOI:10.1016/j.ekir.2020.10.008
PMID:33306044
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7710887/
Abstract
摘要

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本文引用的文献

1
Variable Expressivity of HNF1B Nephropathy, From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease.HNF1B肾病的可变表达性，从肾囊肿和糖尿病到通过肾小管间质性肾病发展为髓质海绵肾。
Kidney Int Rep. 2020 Oct 7;5(12):2341-2350. doi: 10.1016/j.ekir.2020.09.042. eCollection 2020 Dec.
2
New insights into the role of HNF-1β in kidney (patho)physiology.HNF-1β 在肾脏（病理）生理学中的作用的新见解。
Pediatr Nephrol. 2019 Aug;34(8):1325-1335. doi: 10.1007/s00467-018-3990-7. Epub 2018 Jul 1.
3
Direct reprogramming of fibroblasts into renal tubular epithelial cells by defined transcription factors.通过定义的转录因子将成纤维细胞直接重编程为肾小管上皮细胞。
Nat Cell Biol. 2016 Dec;18(12):1269-1280. doi: 10.1038/ncb3437. Epub 2016 Nov 7.
4
Hepatocyte Nuclear Factor 1β-Associated Kidney Disease: More than Renal Cysts and Diabetes.肝细胞核因子1β相关肾病：不止肾囊肿与糖尿病
J Am Soc Nephrol. 2016 Feb;27(2):345-53. doi: 10.1681/ASN.2015050544. Epub 2015 Aug 28.
5
Hepatocyte nuclear factor 1β controls nephron tubular development.肝细胞核因子 1β 控制肾单位小管的发育。
Development. 2013 Feb;140(4):886-96. doi: 10.1242/dev.086546.
6
Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood.成年型 HNF1B 肾病的诊断、治疗和预后。
Kidney Int. 2011 Oct;80(7):768-76. doi: 10.1038/ki.2011.225. Epub 2011 Jul 20.
7
HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.肝细胞核因子1β（HNF1B）突变与低镁血症及肾性镁流失相关。
J Am Soc Nephrol. 2009 May;20(5):1123-31. doi: 10.1681/ASN.2008060633. Epub 2009 Apr 23.
8
Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort.儿科队列中与肝细胞核因子-1β（TCF2）突变相关的肾脏表型
J Am Soc Nephrol. 2006 Feb;17(2):497-503. doi: 10.1681/ASN.2005101040. Epub 2005 Dec 21.
9
Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY.与青少年发病的成年型糖尿病相关的肝细胞核因子-1β基因（TCF2）突变。
Nat Genet. 1997 Dec;17(4):384-5. doi: 10.1038/ng1297-384.