文献

J-GLOBAL ID：201902213549402706   整理番号：19A0610644

先天性全身性リポジストロフィー4型(CGL4)に対するメトレレプチン治療:症例報告

Metreleptin treatment for congenital generalized lipodystrophy type 4 (CGL4): a case report

著者 (18件)： Takeyari Shinji (Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan) ,  Takakuwa Satoshi (Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan) ,  Takakuwa Satoshi (Department of Pediatrics, Hyogo Prefectural Nishinomiya Hospital, Hyogo, Japan) ,  Miyata Kei (Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan) ,  Yamamoto Kenichi (Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan) ,  Yamamoto Kenichi (Department of Statistical Genetics, Osaka University Graduate School of Medicine, Osaka, Japan) ,  Nakayama Hirofumi (Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan) ,  Nakayama Hirofumi (The Japan Environment and Children’s Study, Osaka Unit Center, Osaka, Japan) ,  Ohata Yasuhisa (Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan) ,  Ohata Yasuhisa (The 1st Department of Oral and Maxillofacial Surgery, Osaka University Graduate School of Dentistry, Osaka, Japan) ,  Fujiwara Makoto (Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan) ,  Kitaoka Taichi (Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan) ,  Kubota Takuo (Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan) ,  Namba Noriyuki (Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan) ,  Namba Noriyuki (Department of Pediatrics, Osaka Hospital, Japan Community Healthcare Organization (JCHO), Osaka, Japan) ,  Sakai Norio (Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan) ,  Sakai Norio (Child Healthcare and Genetic Science Laboratory, Division of Health Sciences, Osaka University Graduate School of Medicine, Osaka, Japan) ,  Ozono Keiichi (Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan)
資料名： Clinical Pediatric Endocrinology  (Clinical Pediatric Endocrinology)
巻： 28  号： 1  ページ： 1-7(J-STAGE)  発行年： 2019年 
JST資料番号： L4217A  ISSN： 0918-5739  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： 日本 (JPN)  言語： 英語 (EN)

抄録/ポイント： 先天性全身性リポジストロフィー4型(CGL4)は,遺伝子ポリ...

シソーラス用語： ヒト ,...
準シソーラス用語： HOMA-IR ,...

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著者キーワード (4件)： 先天性全身性リポジストロフィー ,  メトレreleチン ,  レプチン ,  PTRF

分類 (3件)： 生理活性ペプチド  (EB08100U) ,  代謝異常・栄養性疾患の治療  (GD05030F) ,  先天性疾患・奇形一般  (GD03010V)

引用文献 (18件)：

• 1. Berardinelli, W. An undiagnosed endocrinometabolic syndrome: report of 2 cases. J Clin Endocrinol Metab 1954;14: 193-204.
• 2. Garg, A. Clinical review#: Lipodystrophies: genetic and acquired body fat disorders. J Clin Endocrinol Metab 2011;96: 3313-25.
• 3. Hayashi, YK, Matsuda, C, Ogawa, M, Goto, K, Tominaga, K, Mitsuhashi, S, et al. Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. J Clin Invest 2009;119: 2623-33.
• 4. Shastry, S, Delgado, MR, Dirik, E, Turkmen, M, Agarwal, AK, Garg, A. Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations. Am J Med Genet A 2010;152A: 2245-53.
• 5. Rajab, A, Straub, V, McCann, LJ, Seelow, D, Varon, R, Barresi, R, et al. Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations. PLoS Genet 2010;6: e1000874.

タイトルに関連する用語 (3件)： 先天性全身性リポジストロフィー ,  治療 ,  症例報告