电邮这篇文章 Familial partial lipodystrophy (Dunnigan syndrome) due to LMNA gene mutation: The first description of its clinical case in Russia
- 作者: Sorkina E1, Kalashnikova M1, Melnichenko G2,3, Tyulpakov A4
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隶属关系:
- «Первый МГМУ им. И.М. Сеченова» Минздрава России
- «Первый МГМУ им. И.М. Сеченова» Минздрава России, Москва, Россия
- «Эндокринологический научный центр» Минздрава России, Москва, Россия
- «Эндокринологический научный центр» Минздрава России
- 期: 卷 87, 编号 3 (2015)
- 页面: 83-87
- 栏目: Editorial
- URL: https://journals.rcsi.science/0040-3660/article/view/31730
- ID: 31730
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Hereditary lipodystrophies (HLD) are a heterogeneous group of rare diseases characterized by a complete or partial loss of subcutaneous fat and by the development of metabolic disturbances: diabetes mellitus with obvious insulin resistance and acanthosis nigricans, dyslipidemia, hepatic steatosis, hypertension, and polycystic ovary syndrome. The laminopathy variant familial partial lipodystrophy type 2 or Dunnigan syndrome (FPLD2) is the most common cause of partial LD. The paper describes a family (3 clinical cases) with FPLD2 caused by heterozygous R482W missense mutations in the gene encoding the protein lamin A/C (LMNA; 150330). This observation demonstrates that specialists should be more aware of this disease and make a timely diagnose in cases of concurrent severe metabolic disturbances at a young age, which contributes to more effective treatment of patients and to medical genetic counseling of their families.
作者简介
E Sorkina
«Первый МГМУ им. И.М. Сеченова» Минздрава РоссииМосква, Россия
M Kalashnikova
«Первый МГМУ им. И.М. Сеченова» Минздрава РоссииМосква, Россия
G Melnichenko
«Первый МГМУ им. И.М. Сеченова» Минздрава России, Москва, Россия; «Эндокринологический научный центр» Минздрава России, Москва, Россия
A Tyulpakov
«Эндокринологический научный центр» Минздрава РоссииМосква, Россия
参考
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