Open AccessDevelopment of metabolic syndrome at a young age as a manifestation of familial partial lipodystrophy type 3 (PPARG mutation): the first description of its clinical case in Russia
Author(s) -
Соркина Екатерина Леонидовна,
Калашникова Марина Федоровна,
Лиходей Наталья Вячеславовна,
Кокшарова Екатерина Олеговна,
Устюжанин Дмитрий Владимирович,
Майоров Александр Юрьевич,
Шестакова Марина Владимировна,
Тюльпаков Анатолий Николаевич
Publication year - 2015
Publication title -
saharnyj diabet
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.155
H-Index - 12
eISSN - 2072-0378
pISSN - 2072-0351
DOI - 10.14341/dm2015399-105
Subject(s) - peroxisome proliferator activated receptor gamma , medicine , insulin resistance , lipodystrophy , pediatrics , metabolic syndrome , population , diabetes mellitus , endocrinology , peroxisome , human immunodeficiency virus (hiv) , immunology , receptor , environmental health , antiretroviral therapy , viral load
Metabolic syndrome (MS) is extremely common (20%–25% of the world’s population), and its diagnostic criteria are defined and well known. It has been shown that patients who have MS are twice as likely to die from a cardiovascular complication and three times as likely to suffer from it compared with patients without MS. However, the underlying cause of MS remains to be clearly elucidated, although inherited factors, such as insulin resistance (IR), and external factors are considered to play a key role in this process. Special attention should be paid to MS in young patients, who may present the first manifestation of inherited lipodystrophy. The study describes the first known family in Russia (three clinical cases) with familial partial lipodystrophy (FPLD) type 3 caused by heterozygous p.R212Q PPARG mutation (MIM#601487). The study reports rare forms of inherited IR, such as FPLD, and contributes to a better understanding of common disorders such as MS.