References

problendo

Проблемы Эндокринологии

Problems of Endocrinology

0375-96602308-1430

Endocrinology Research Centre

10.14341/probl201561316-22

problendo-7717

Research Article

Статьи

Articles

MODY3 у детей и подростков: молекулярно-генетическая основа и клинико-лабораторные проявления

MODY3 in the children and adolescents: the molecular-genetic basis and clinico-laboratory manifestations

Сечко

Е А

Sechko

E A

elena.sechko@bk.ru

Кураева

Т Л

Kuraeva

T L

Зильберман

Л И

Zil’berman

L I

Иванова

О Н

Ivanova

O N

Петеркова

В А

Peterkova

V A

ГБОУ ВПО «Первый МГМУ им. И.М. Сеченова»Sechenov First Moscow State Medical University

ГБОУ ВПО «Первый МГМУ им. И.М. Сеченова»; ФГБУ «Эндокринологический научный центр»Sechenov First Moscow State Medical University; Endocrinology Research Centre

ФГБУ «Эндокринологический научный центр»Endocrinology Research Centre

2015

15062015

613

ТОМ 61, №3 (2015)

1622

2015

Сечко Е.А., Кураева Т.Л., Зильберман Л.И., Иванова О.Н., Петеркова В.А.

Sechko E.A., Kuraeva T.L., Zil’berman L.I., Ivanova O.N., Peterkova V.A.

Данная работа распространяется под лицензией Creative Commons Attribution 4.0.

This work is licensed under a Creative Commons Attribution 4.0 License.

https://www.probl-endojournals.ru/jour/article/view/7717

Исследование гена HNF1A было проведено у 121 ребенка с подозрением на неиммунную форму диабета. Диагноз MODY3 верифицирован у 18 (14,9%) пробандов. Нарушения углеводного обмена у одного из родителей выявлены в 94,5%. У пробандов возраст выявления нарушения углеводного обмена составил 11,65 года (9,8; 14,6), клинические проявления сахарного диабета были в 16,7%: уровень гликемии натощак - 7,5 ммоль/л (7,0; 8,5), HbA1c - 6,6% (6,5; 7,7), в 66,7% - в анамнезе глюкозурия. В 33,3% случаев выявлено ожирение. Нормальный уровень гликемии натощак и уровень HbA1c ниже диагностического определялся в 22,2%. При ОГТТ уровень гликемии достигал диабетических значений в 100% при сохранной секреции инсулина. У пациентов выявлены аутоантитела в низком титре - в 20% GADa и в 22,2% IA-2. Наиболее частая мутация - p.P291fs.

The present study of HNF1А gene involved 121 children suspected to have the nonimmune-mediated form of diabetes mellitus. Diagnosis of MODY3 was verified in 18 (19.4%) probands. Disturbances of carbohydrate metabolism in one of the parents were documented in 94.5% of the cases. Metabolic disorders were revealed in the probands at the mean age of 11.65 years (9.8; 14.6), the clinical manifestations of diabetes mellitus (DM) were apparent in 16.7% of the children, the fasting blood glucose level was 7.5 mmol/l, HbA1c 6.6% (6.5; 7.7), 66.7% of the children had a history of glucosuria and 33.3% suffered obesity. The normal fasting blood glucose and HbA1c levels were found in 22.2% of the children. In 100% of the cases, results of OGTT suggested diabetes despite insulin secretion. Low titers of anti-GAD and anti-IA2 antibodies were detected in 20.0 and 22.2% of the children respectively. The most common mutation was p.P291fs.

моногенный диабетдетиподростки

MODY3HNF1AMODY3HNF1Amonogenic diabeteschildrenadolescents

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The authors declare that there are no conflicts of interest present.