Terapevticheskii arkhivTerapevticheskii arkhivТерапевтический архив0040-36602309-5342LLC Obyedinennaya Redaktsiya3229810.17116/terarkh201789868-71Editorial articleПередовая статьяResearch ArticleUromodulin gene polymorphisms in patients with cast nephropathy in multiple myelomaПолиморфизмы гена уромодулина у больных каст-нефропатией при множественной миеломеRekhtinaI GРехтинаИ ГMendeleevaL PМенделееваЛ ПBidermanB VБидерманБ ВSolovyevM VСоловьевМ ВSudarikovA BСудариковА БФГБУ «Гематологический научный центр» Минздрава России15082017898VOL 89, NO8 ()ТОМ 89, №8 (2017)687110042020Copyright ©; 2017, Consilium MedicumCopyright ©; 2017, ООО "Консилиум Медикум"2017Consilium MedicumООО "Консилиум Медикум"https://creativecommons.org/licenses/by-nc-sa/4.0https://ter-arkhiv.ru/0040-3660/article/view/32298

Aim. To investigate the nature of mutations in exons 4 and 5 of the uromodulin (UM) gene, including in the area encoding the domain of 8 cysteines (D8C), in patients with multiple myeloma (MM) with the secretion of monoclonal light chains (LC) in cast nephropathy (CN) and without kidney injury. Subjects and methods. The investigation enrolled 24 patients in MM remission, who were observed to have monoclonal LC secretion at onset. Group 1 included 14 patients with CN; Group 2 consisted of 10 patients with normal renal function (a comparison group). The compared groups did not differ in the number of serum and urinary monoclonal LCs. Genomic DNA was extracted from the peripheral blood samples of patients. The nucleotide sequence of exons 4 and 5 of the UM gene was determined by the Sanger method. Results. No differences were found in the frequency of polymorphisms depending on the severity of kidney injury. The missense mutation p.142R>R/Q in the UM gene, which had not been previously described, was discovered. Conclusion. The patients with MM were not found to have statistically significant differences in the frequency and nature of polymorphisms of exons 4 and 5 in the UM gene, including in the area encoding D8C, in CN without kidney injury.

Резюме Цель исследования. Изучить характер мутаций в 4-м и 5-м экзонах гена уромодулина (УМ), в том числе в участке, кодирующем домен 8 цистеинов (D8C), у больных множественной миеломой (ММ) с секреций моноклональных легких цепей (ЛЦ) при каст-нефропатии (КН) и без поражения почек. Материалы и методы. В исследование включили 24 больных, находящихся в ремиссии ММ, у которых в дебюте отмечалась секреция моноклональных ЛЦ. В 1-ю группу вошли 14 больных КН, во 2-ю группу (сравнения) — 10 больных с нормальной функцией почек. Сравниваемые группы не различались по количеству моноклональных ЛЦ в сыворотке и моче. Геномную ДНК выделяли из образцов периферической крови пациентов. Определение нуклеотидной последовательности 4-го и 5-го экзонов гена УМ проводили методом Сэнгера. Результаты. Различий по частоте полиморфизмов в зависимости от поражения почек не выявлено. Обнаружена миссенс-мутация p.142R>R/Q в гене УМ, которая ранее не описана. Заключение. У больных ММ не найдено статистически значимых различий по частоте и характере полиморфизмов 4-го и 5-го экзонов гена УМ, в том числе в участке, кодирующем D8C, при КН и без поражения почек.

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