Lipodystrophy: the discovery of a new heterozygous pathogenic variant p.Gly20Arg in PPARG gene in a Russian patient.
DOI:
https://doi.org/10.34687/2219-8202.JAD.2022.02.0006Keywords:
Lipodystrophy, adipose tissue, leptin, metreleptin, insulin resistance, dyslipidemiaAbstract
Lipodystrophy is an extremely rare pathology associated with changes in the structure and function of adipose tissue, leading to insulin resistance and ectopic fat accumulation with severe metabolic complications. The case report focuses on a young patient with a verified diagnosis of lipodystrophy with a mutation in the PPARG gene according to Sanger.
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References
Chiquette E., Oral EA., Garg A. et al.
Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges. Diabetes Metab Syndr Obes. 2017;10:375. doi:10.2147/DMSO.S130810).
Brown R.J., Araujo-Vilar D., Cheung P.T. et al.
The diagnosis and management of lipodystrophy syndromes: a multi-society practice guideline. J Clin Endocrinol Metab. 2016;101:4500–4511.
doi: 10.1210/jc.2016-2466.
Christos B., Angeliki X., Alexandra B. et al. Familial Partial Lipodystrophy (FPLD): Recent Insights. Diabetes Metab Syndr Obes. 2020; 13: 1531–1544. Published online 2020 May 6.
doi: 10.2147/DMSO.S206053
Garg A. Acquired and inherited lipodystrophies. N Engl J Med. 2004;350(12):1220–1234.).
Xavier Prieur et al Congenital Lipodystrophies and Dyslipidemias, Curr Atheroscler Rep (2014) 16:437
Banning F., Rottenkolber M., Freibothe I. et al. Insulin secretory defect in familial partial lipodystrophy Type 2 and successful long-term treatment with a glucagon-like peptide 1 receptor agonist. Diabet Med. 2017 Dec; 34(12):1792-1794.
Kawana Y., Imai J., Sawada S. et al. Sodium-Glucose Cotransporter 2 Inhibitor Improves Complications of Lipodystrophy: A Case Report. Ann Intern Med. 2017 Mar 21; 166(6):450-451.
Akinci B, Meral R, Oral EA. Update on Therapeutic Options in Lipodystrophy.
Curr Diab Rep. 2018 Oct 29; 18(12):139.
Friedman JM, Mantzoros CS. 20 years of leptin: from the discovery of the leptin gene to leptin in our therapeutic armamentarium. Metabolism. 2015 Jan; 64(1):1-4.
Barroso I, Gurnell M, Crowley VE, Agostini M, Schwabe JW, Soos MA, et al. Dominant negative mutations in human PPARγ associated with severe insulin resistance, diabetes mellitus and hypertension. Nature. 1999;402:880–3.
Rosen ED, Sarraf P, Troy AE, Bradwin G, Moore K, Milstone DS, et al. PPARγ is required for the differentiation of adipose tissue in vivo and in vitro. Mol Cell. 1999;4:611–7.
Barak Y, Nelson MC, Ong ES, Jones YZ, Ruiz-Lozano P, Chien KR, et al. PPARγ is required for placental, cardiac, and adipose tissue development. Mol Cell. 1999;4:585–95.
Wang F, Mullican SE, DiSpirito JR, Peed LC, Lazar MA. Lipoatrophy and severe metabolic disturbance in mice with fatspecific deletion of PPARγ. Proc Natl Acad Sci U S A. 2013;110: 18656–61.
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Copyright (c) 2022 Игорь Владимирович Сергиенко, Наталья Александровна Соничева, Анна Борисовна Попова, Диана Нодариевна Нозадзе, Юлия Андреевна Прус, Наталья Сергеевна Курочкина, Ульяна Валерьевна Чубыкина, Ольга Николаевна Иванова, Петр Андреевич Васильев
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