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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Autores principales:	Ekaterina Leonidovna Sorkina, Marina Fedorovna Kalashnikova, Natalya Vyacheslavovna Likhodey, Ekaterina Olegova Koksharova, Dmitry Vladimirovich Ustyuzhanin, Alexander Yuryevich Mayorov, Marina Vladimirovna Shestakova, Anatoly Nikolaevich Tiulpakov
Formato:	article
Lenguaje:	EN RU
Publicado:	Endocrinology Research Centre 2015
Materias:	metabolic syndrome familial partial lipodystrophy type 3 pparg insulin resistance impaired glucose tolerance acanthosis nigricans polycystic ovary syndrome Nutritional diseases. Deficiency diseases RC620-627
Acceso en línea:	https://doaj.org/article/4fbbd980baef4951b83935980887ef05
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spelling	oai:doaj.org-article:4fbbd980baef4951b83935980887ef052021-11-14T09:00:19ZDevelopment 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 Russia2072-03512072-037810.14341/DM2015399-105https://doaj.org/article/4fbbd980baef4951b83935980887ef052015-10-01T00:00:00Zhttps://www.dia-endojournals.ru/jour/article/view/7191https://doaj.org/toc/2072-0351https://doaj.org/toc/2072-0378Metabolic 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.Ekaterina Leonidovna SorkinaMarina Fedorovna KalashnikovaNatalya Vyacheslavovna LikhodeyEkaterina Olegova KoksharovaDmitry Vladimirovich UstyuzhaninAlexander Yuryevich MayorovMarina Vladimirovna ShestakovaAnatoly Nikolaevich TiulpakovEndocrinology Research Centrearticlemetabolic syndromefamilial partial lipodystrophy type 3pparginsulin resistanceimpaired glucose toleranceacanthosis nigricanspolycystic ovary syndromeNutritional diseases. Deficiency diseasesRC620-627ENRUСахарный диабет, Vol 18, Iss 3, Pp 99-105 (2015)
institution	DOAJ
collection	DOAJ
language	EN RU
topic	metabolic syndrome familial partial lipodystrophy type 3 pparg insulin resistance impaired glucose tolerance acanthosis nigricans polycystic ovary syndrome Nutritional diseases. Deficiency diseases RC620-627
spellingShingle	metabolic syndrome familial partial lipodystrophy type 3 pparg insulin resistance impaired glucose tolerance acanthosis nigricans polycystic ovary syndrome Nutritional diseases. Deficiency diseases RC620-627 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
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.
format	article
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
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
publishDate	2015
url	https://doaj.org/article/4fbbd980baef4951b83935980887ef05
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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

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