Metreleptin treatment for congenital generalized lipodystrophy type 4 (CGL4): a case report-Reference-Cited by-同舟云学术

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

Published:2019 Issue:1 Volume:28 Page:1-7
ISSN:0918-5739
Container-title:Clinical Pediatric Endocrinology
language:en
Short-container-title:Clin Pediatr Endocrinol

Author:

Takeyari Shinji¹,Takakuwa Satoshi¹²,Miyata Kei¹,Yamamoto Kenichi¹³,Nakayama Hirofumi¹⁴,Ohata Yasuhisa¹⁵,Fujiwara Makoto¹,Kitaoka Taichi¹,Kubota Takuo¹,Namba Noriyuki¹⁶,Sakai Norio¹⁷,Ozono Keiichi¹

Affiliation:

1. Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan

2. Department of Pediatrics, Hyogo Prefectural Nishinomiya Hospital, Hyogo, Japan

3. Department of Statistical Genetics, Osaka University Graduate School of Medicine, Osaka, Japan

4. The Japan Environment and Children’s Study, Osaka Unit Center, Osaka, Japan

5. The 1^st Department of Oral and Maxillofacial Surgery, Osaka University Graduate School of Dentistry, Osaka, Japan

6. Department of Pediatrics, Osaka Hospital, Japan Community Healthcare Organization (JCHO), Osaka, Japan

7. Child Healthcare and Genetic Science Laboratory, Division of Health Sciences, Osaka University Graduate School of Medicine, Osaka, Japan

Publisher

Japanese Society for Pediatric Endocrinology

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Link

https://www.jstage.jst.go.jp/article/cpe/28/1/28_2018-0015/_pdf

Reference18 articles.

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2. 2. Garg, A. Clinical review#: Lipodystrophies: genetic and acquired body fat disorders. J Clin Endocrinol Metab 2011;96: 3313–25.

3. 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. 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. 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.

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2. A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature;Frontiers in Endocrinology;2023-07-12

3. Congenital generalized lipodystrophy type 4 due to a novel PTRF/CAVIN1 pathogenic variant in a child: effects of metreleptin substitution;Journal of Pediatric Endocrinology and Metabolism;2022-04-11

4. Unusual clinical features associated with congenital generalized lipodystrophy type 4 in a patient with a novel E211X CAVIN1 gene variant;Clinical Diabetes and Endocrinology;2020-05-14

5. Diagnostic strategies and clinical management of lipodystrophy;Expert Review of Endocrinology & Metabolism;2020-03-03