Моногенний діабет в Україні: гени, фенотип, лікування
DOI:
https://doi.org/10.24026/1818-1384.3(59).2017.110893Ключові слова:
MODY, моногенний діабет, сульфонілсечовина, лікування, УкраїнаАнотація
Актуальність проблеми. Діабет дорослого типу у молодих (MODY) раніше не вивчався в Україні. Ми дослідили генетичну етіологію у вибраній когорті пацієнтів з цукровим діабетом (ЦД), вік яких на момент діагностування ЦД був від 9 місяців до 25 років, а також у членів їх сімей. Матеріали та методи. Генетичне тестування найбільш поширених генів MODY (GCK, HNF1A, HNF4A, HNF1B та INS) було здійснено для 48 сімей (51 хворий) за допомогою Sanger секвенування або таргетного секвенування наступного покоління (tNGS). Результати. Генетичний діагноз MODY було підтверджено у 24/51 хворих з 21/48 сімей (44%). HNF1A та HNF4A MODY були найбільш поширеними варіантами та склали 11/24 випадків MODY (46%). Десять пацієнтів з HNF1A/HNF4A та ABCC8 MODY та незадовільним глікемічним контролем були успішно переведені на препарати сульфонілсечовини. Середній рівень HbA1c знизився з 7,9% [7,5-8,4] до 6,3% [5,9-6,7] через 3 місяці після переводу (р=0,0001). Висновки. Генетичне тестування виявило, що у пацієнтів з MODY в Україні найчастішими були мутації в гені HNF1A/HNF4A. Перехід на препарати сульфонілсечовини суттєво покращив глікемічний контроль цих пацієнтів.Посилання
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