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

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.

моногенный диабет, дети, подростки

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