nogrЭкспериментальная и клиническая гастроэнтерологияExperimental and Clinical Gastroenterology1682-8658«Global Media Technologies»10.31146/1682-8658-ecg-246-2-110-116nogr-3404Research ArticleКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯCLINICAL CASESЯзвенный колит с мутацией в гене HMBS, ассоциированный с острой перемежающейся порфириейUlcerative colitis with a mutation in the HMBS gene associated with acute intermittent porphyriahttps://orcid.org/0000-0001-9499-5632ГилязоваИ. Р.GilyazovaI. R.gilyasova_irina@mail.ruhttps://orcid.org/0000-0002-0584-3969БермишеваМ. А.BermishevaM. A.marina_berm@mail.ruhttps://orcid.org/0000-0002-2570-0789КарунасА. С.KarunasA. S.noemail@neicon.ruhttps://orcid.org/0009-0008-5679-6921АхметшинА. А.AkhmetshinA. A.noemail@neicon.ruМонаховаА. С.MonakhovaA. S.noemail@neicon.ruПушкареваА. Э.PushkarevaA. E.noemail@neicon.ruhttps://orcid.org/0000-0003-2987-3334ХуснутдиноваЭ. К.KhusnutdinovaE. K.noemail@neicon.ruИнститут биохимии и генетики Федерального государственного бюджетного научного учреждения Уфимского федерального исследовательского центра Российской академии наук; Федеральное государственное бюджетное образовательное учреждение высшего образования «Башкирский государственный медицинский университет» Министерства здравоохранения Российской ФедерацииРоссияInstitute of Biochemistry and Genetics, Ufa Federal Research Center, Russia Academy of Sciences; Bashkir State Medical UniversityRussian FederationИнститут биохимии и генетики Федерального государственного бюджетного научного учреждения Уфимского федерального исследовательского центра Российской академии наукРоссияInstitute of Biochemistry and Genetics, Ufa Federal Research Center, Russia Academy of SciencesRussian FederationООО «Биотехнологический кампус»РоссияLimited liability company “Biotechnology Company”Russian FederationФедеральное государственное бюджетное образовательное учреждение высшего образования «Башкирский государственный медицинский университет» Министерства здравоохранения Российской ФедерацииРоссияBashkir State Medical UniversityRussian Federation20261807202602110116Copyright © Гилязова И.Р., Бермишева М.А., Карунас А.С., Ахметшин А.А., Монахова А.С., Пушкарева А.Э., Хуснутдинова Э.К., 20262026Гилязова И.Р., Бермишева М.А., Карунас А.С., Ахметшин А.А., Монахова А.С., Пушкарева А.Э., Хуснутдинова Э.К.Gilyazova I.R., Bermisheva M.A., Karunas A.S., Akhmetshin A.A., Monakhova A.S., Pushkareva A.E., Khusnutdinova E.K.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.nogr.org/jour/article/view/3404

В исследовании мы описываем 12-летнюю пациентку, страдающую язвенным колитом с тотальным поражением слизистой кишечника. Целью исследования является уточнение этиологии заболевания с использованием молекулярно-генетических методов. Mетоды. Полногеномное секвенирование выполнено с использованием платформы DNBSEQ-T7RS. Для оценки патогенности выявленных вариантов использовали прогностические программы CADD, PROVEAN и др. Результат. Обнаружены патогенный миссенс вариант c.583C>T, p.Arg195Cys в гене HMBS, ассоциированный с острой перемежающейся порфирией и редкий вариант с неустановленной патогенетической значимостью c.437G>A, p.Arg146Gln в гене TTC7A, который ассоциирован с кишечными и иммунными расстройствами различной степени тяжести. Выводы. Выявлено неожиданное сочетание язвенного колита с мутацией в гене HMBS, ассоциированной с аутосомно-доминантным заболеванием - острой перемежающейся порфирией, которая в редких случаях сочетается с воспалительными заболеваниями кишечника.

In this study, we describe a 12-year-old girl suffering from ulcerative colitis with total intestinal mucosal involvement. The aim of our study is to clarify the etiology of the disease using molecular genetics testing. Methods. Whole-genome sequencing was performed using the DNBSEQ-T7RS platform. We used the CADD, PROVEAN and other predictive programs to determine potential clinical significance of the identified variants. Results. The pathogenic missense variant c.583C>T, p.Arg195Cys in the HMBS gene, associated with acute intermittent porphyria, and a rare variant of unknown significance.c.437G>A, p.Arg146Gln in the TTC7A gene, which is associated with intestinal and immune disorders of varying severity were detected. Conclusions. An unexpected combination of ulcerative colitis with a mutation in the HMBS gene associated with an autosomal dominant acute porphyria which in rare cases is combined with inflammatory bowel diseases, has been identified.

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