Art

J-GLOBAL ID：201902213549402706   Reference number：19A0610644

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

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

Author (18)： 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)
Material： Clinical Pediatric Endocrinology  (Clin Pediatr Endocrinol)
Volume： 28  Issue： 1  Page： 1-7(J-STAGE)  Publication year： 2019 
JST Material Number： L4217A  ISSN： 0918-5739  Document type： Article
Article type： 原著論文  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： human ,...
Semi thesaurus term： HOMA-IR ,...

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Author keywords (4)： congenital generalized lipodystrophy ,  metreleptin ,  leptin ,  PTRF

JST classification (3)： Bioactive peptides  (EB08100U) ,  Treatment for metabolic diseases,nutritional diseases.  (GD05030F) ,  Congenital diseases,deformities in general.  (GD03010V)

Reference (18)：

• 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.

Terms in the title (3)： 先天性全身性リポジストロフィー ,  治療 ,  症例報告