Development 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
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...
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Endocrinology Research Centre
2015-06-01
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| Series: | Сахарный диабет |
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| Online Access: | https://dia-endojournals.ru/dia/article/viewFile/7191/5462 |
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doaj-4fbbd980baef4951b83935980887ef052021-06-02T19:24:43ZengEndocrinology Research CentreСахарный диабет2072-03512072-03782015-06-011839910510.14341/DM2015399-1056823Development 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 RussiaEkaterina Leonidovna Sorkina0Marina Fedorovna Kalashnikova1Natalya Vyacheslavovna Likhodey2Ekaterina Olegova Koksharova3Dmitry Vladimirovich Ustyuzhanin4Alexander Yuryevich Mayorov5Marina Vladimirovna Shestakova6Anatoly Nikolaevich Tiulpakov7I.M. Sechenov First Moscow State Medical UniversityI.M. Sechenov First Moscow State Medical UniversityI.M. Sechenov First Moscow State Medical UniversityEndocrinology Research CentreCardiology Research ComplexI.M. Sechenov First Moscow State Medical University; Endocrinology Research CentreI.M. Sechenov First Moscow State Medical University; Endocrinology Research CentreEndocrinology Research CentreMetabolic 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.https://dia-endojournals.ru/dia/article/viewFile/7191/5462metabolic syndromefamilial partial lipodystrophy type 3pparginsulin resistanceimpaired glucose toleranceacanthosis nigricanspolycystic ovary syndrome |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Ekaterina Leonidovna Sorkina Marina Fedorovna Kalashnikova Natalya Vyacheslavovna Likhodey Ekaterina Olegova Koksharova Dmitry Vladimirovich Ustyuzhanin Alexander Yuryevich Mayorov Marina Vladimirovna Shestakova Anatoly Nikolaevich Tiulpakov |
| spellingShingle |
Ekaterina Leonidovna Sorkina Marina Fedorovna Kalashnikova Natalya Vyacheslavovna Likhodey Ekaterina Olegova Koksharova Dmitry Vladimirovich Ustyuzhanin Alexander Yuryevich Mayorov Marina Vladimirovna Shestakova Anatoly Nikolaevich Tiulpakov Development 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 Сахарный диабет metabolic syndrome familial partial lipodystrophy type 3 pparg insulin resistance impaired glucose tolerance acanthosis nigricans polycystic ovary syndrome |
| author_facet |
Ekaterina Leonidovna Sorkina Marina Fedorovna Kalashnikova Natalya Vyacheslavovna Likhodey Ekaterina Olegova Koksharova Dmitry Vladimirovich Ustyuzhanin Alexander Yuryevich Mayorov Marina Vladimirovna Shestakova Anatoly Nikolaevich Tiulpakov |
| author_sort |
Ekaterina Leonidovna Sorkina |
| title |
Development 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 |
| title_short |
Development 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 |
| title_full |
Development 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 |
| title_fullStr |
Development 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 |
| title_full_unstemmed |
Development 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 |
| title_sort |
development 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 |
| publisher |
Endocrinology Research Centre |
| series |
Сахарный диабет |
| issn |
2072-0351 2072-0378 |
| publishDate |
2015-06-01 |
| description |
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. |
| topic |
metabolic syndrome familial partial lipodystrophy type 3 pparg insulin resistance impaired glucose tolerance acanthosis nigricans polycystic ovary syndrome |
| url |
https://dia-endojournals.ru/dia/article/viewFile/7191/5462 |
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