Successfully maintained hemodialysis for the treatment of chronic renal failure in a patient with Hallopeau-Siemens type recessive dystrophic epidermolysis bullosa

Hideo IIDA; Toshio HASEGAWA; Keiko OKUMA; Mroaki IO; Yasuhiko TOMINO; Shigaku IKEDA

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Successfully maintained hemodialysis for the treatment of chronic renal failure in a patient with Hallopeau-Siemens type recessive dystrophic epidermolysis bullosa

机译：成功维持血液透析治疗哈洛波-西门子型隐性营养不良性大疱性表皮松解症患者的慢性肾衰竭

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Recessive dystrophic epidermoiysis bullosa (RDEB), characterized by skin fragility, blistering, scarring, nail changes and milia formation, is caused by mutations in a single gene, COL7A1, which encodes the anchoring fibril protein, type collagen. Hallopeau-Siemens type (RDEB-HS) is considered to be the most severe form of RDEB. Renal failure is a major complication and an important cause of mortality in patients withRDEB. However, regular hemodialysis in patients with severe RDEB is deemed impossible because establishing an internal arteriovenous fistula and repeated access are extremely difficult due to severe skin blisters.

机译：隐性营养不良性大疱性表皮大疱病（RDEB）的特征是皮肤脆弱，起泡，疤痕，指甲改变和and形成，是由单个基因COL7A1的突变引起的，该基因编码锚定纤维蛋白（胶原蛋白）。哈洛波-西门子型（RDEB-HS）被认为是最严重的RDEB形式。肾衰竭是RDEB患者的主要并发症，也是重要的死亡原因。但是，严重的RDEB患者不能进行定期的血液透析，因为由于严重的皮肤水泡，建立内部动静脉瘘和重复进入非常困难。

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《The Journal of dermatology》 |2012年第12期|共11页
作者
Hideo IIDA; Toshio HASEGAWA; Keiko OKUMA; Mroaki IO; Yasuhiko TOMINO; Shigaku IKEDA;
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正文语种 eng
中图分类皮肤病学与性病学;
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1. Successfully maintained hemodialysis for the treatment of chronic renal failure in a patient with Hallopeau-Siemens type recessive dystrophic epidermolysis bullosa [J] . Hideo IIDA, Toshio HASEGAWA, Keiko OKUMA, The Journal of dermatology . 2012,第12期

机译：成功维持血液透析治疗哈洛波-西门子型隐性营养不良性大疱性表皮松解症患者的慢性肾衰竭
2. NOVEL COL7A1 MUTATIONS OF HALLOPEAU-SIEMENS TYPE -RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA [J] . Takaya Murai, Katsuto Tamai, Hajime Nakano, 弘前医学 . 2008,第1期

机译：Hallopeau-Siemens类型的新型COL7A1突变类型的营养不良表皮细胞Bullosa
3. A novel COL7A1 mutation in a Korean patient with Hallopeau-Siemens recessive dystrophic epidermolysis bullosa [J] . J. Park, H. Chae, M. Kim, Genetics and Molecular Research . 2013,第1期

机译：韩国哈洛波-西门子隐性营养不良性表皮松解症患者中的一种新的COL7A1突变
4. The Influence Of Family Support To Patients' anxiety Of Chronic Renal Failure With experience Of Hemodialysis At The Hemodialysis Unit Of Ulin Hospital Banjarmasin [C] . Rina Al Kahfi, Subhannur Rahman, Adriana Palimbo, Sari Mulia International Conference on Health and Sciences . 2018

机译：乌林医院班豆杉血液透析单位血液透析经验对慢性肾功能衰竭患者慢性肾功能衰竭的影响
5. Regulation of Type VII Collagen in Patients with Recessive Dystrophic Epidermolysis Bullosa [D] . Vanden Oever, Michael John. 2017

机译：隐性营养不良性表皮松解大疱患者的VII型胶原蛋白的调节
6. Maintenance Hemodialysis Using Native Arteriovenous Fistula in a Patient with Severe Generalized Recessive Dystrophic Epidermolysis Bullosa [O] . Takayasu Ito, Eiji Ishikawa, Hiroshi Matsuo, 2016

机译：严重的全身性隐性营养不良性表皮松解症患者使用天然动静脉瘘维持血液透析
7. Maintenance Hemodialysis Using Native Arteriovenous Fistula in a Patient with Severe Generalized Recessive Dystrophic Epidermolysis Bullosa [O] . Takayasu Ito, Eiji Ishikawa, Hiroshi Matsuo, 2016

机译：使用严重的普通隐性隐性营养不良表皮细胞患者使用本地动静脉瘘管血液透析性血液透析
8. Molecular Characterization of Squamous Cell Carcinomas From Recessive Dystrophic Epidermolysis Bullosa [R] . Mahoney, M. G. , Rodeck, U. , Uitto, J. 2006

机译：隐性营养不良性大疱性表皮松解症鳞状细胞癌的分子特征

Successfully maintained hemodialysis for the treatment of chronic renal failure in a patient with Hallopeau-Siemens type recessive dystrophic epidermolysis bullosa

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