Russian Journal of AllergyRussian Journal of AllergyРоссийский Аллергологический Журнал1810-88302686-682XPublishing House ABV Press1207010.36691/RJA12070Case reportsКлинические случаиResearch ArticleMyoferline gene mutation сan be associated with recurrent angioedemaМутация в гене миоферлина может быть ассоциирована с развитием рецидивирующих ангиоотёковhttps://orcid.org/0000-0002-5083-66373023-4538FominaDaria S.ФоминаДарья Сергеевна
Russian Federation

MD, Cand. Sci. (Med.), Associate Professor

канд. мед. наук, доцент

daria_fomina@mail.ruhttps://orcid.org/0000-0001-8472-11526644-6715SerdotetskovaSofia A.СердотецковаСофья Александровна
Russian Federation

врач аллерголог-иммунолог

darklynx813@gmail.comhttps://orcid.org/0000-0002-6534-59025806-7260BobrikovaElena N.БобриковаЕлена Николаевна
Russian Federation

заведующая консультативно-диагностического отделения

elena.bobrikova.69@mail.ruhttps://orcid.org/0000-0002-4131-24365379-3655AlekseevaJulia G.АлексееваЮлия Геннадьевна
Russian Federation

врач аллерголог-иммунолог

doctorajg5@gmail.comhttps://orcid.org/0000-0001-5132-12677249-4423RoppeltAnna A.РоппельтАнна Артуровна
Russian Federation

MD, Cand. Sci. (Med.)

канд. мед. наук

roppelt_anna@mail.ruhttps://orcid.org/0000-0001-6010-79753887-6250LysenkoMariana A.ЛысенкоМарьяна Анатольевна
Russian Federation

MD, Dr. Sci. (Med.), Professor

д-р мед. наук, профессор

gkb52@zdrav.mos.ruCity Clinical Hospital No. 52Городская клиническая больница № 52First Sechenov Moscow State Medical University (Sechenov University)Первый Московский государственный медицинский университет имени И.М. Сеченова (Сеченовский Университет)Astana Medical UniversityМедицинский университет АстаныDmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and ImmunologyНациональный медицинский исследовательский центр детской гематологии, онкологии и иммунологии имени Дмитрия РогачеваThe Russian National Research Medical University named after N.I. PirogovРоссийский национальный исследовательский медицинский университет имени Н.И. Пирогова28062023090720232022292370406202316062023Copyright ©; 2023, Pharmarus Print MediaCopyright ©; 2023, Фармарус Принт Медиа2023Pharmarus Print MediaФармарус Принт Медиаhttps://rusalljournal.ru/raj/article/view/12070

Hereditary angioedema is a rare genetically determined disease characterized by the recurrent angioedema of various localizations with no response to systemic glucocorticosteroids, antihistamines.

In the majority of hereditary angioedema cases C1-inhibitor level or it’s functional activity is decreased due to a mutation in the SERPING1 gene. In recent years, the expansion of genetic diagnostic recourses significantly changed our understanding of the pathogenesis of hereditary angioedema without of C1-inhibitor deficiency with previously unknown mutations. Currently mutations in six different genes have been identified as causing hereditary angioedema: factor XII (F12), plasminogen (PLG), angiopoietin 1 (ANGPT1), Kininogen 1 (KNG1), Myoferlin (MYOF), and heparan sulfate (HS)-glucosamine 3-O-sulfotransferase 6 (HS3ST6). Moreover, the last 3 of them are referred to a separate phenotype ― intrinsic endothelial dysfunction.

In 2020 a series of clinical cases in patients with MYOF gene mutation in an Italian family were published. This type is exceptionally rare ― only 3 female relatives from the same family are described.

This article presents a review of the actual international literature and describes the first clinical case of a male patient with a mutation in the myoferlin gene confirmed by genetic testing.

Наследственные ангиоотёки ― редкое генетически-детерминированное заболевание, которое характеризуется развитием ангиоотёков мягких тканей различной локализации, не отвечающих на стандартные методы терапии (системные глюкокортикостероиды, антигистаминные препараты).

В большинстве случаев наследственных ангиоотёков причиной их возникновения является снижение количества или функциональной активности С1-ингибитора, обусловленное мутацией в гене SERPING1. За последние годы ввиду расширения возможностей генетической диагностики произошли значительные изменения в понимании патогенеза наследственных ангиоотёков с нормальным уровнем С1-ингибитора с неизвестными ранее мутациями. Согласно современной классификации, причинно-значимыми для развития данной группы ангиоотёков могут быть мутации в одном из следующих генов: фактор XII (F12), плазминоген (PLG), ангиопоэтин 1 (ANGPT1), кининоген 1 (KNG1), миоферлин (MYOF) и гистамин сульфат (HS)-глюкозамин 3-O-сульфотрансфераза 6 (HS3ST6), причём последние три в данном ряду отнесены к отдельному фенотипу ― эндотелиальной дисфункции.

В 2020 году в международных источниках была впервые опубликована серия клинических случаев с генетически подтверждённой мутацией в гене миоферлина в итальянской семье. Данный фенотип является исключительно редким: в настоящий момент описано всего 3 пациента женского пола из одной семьи.

В настоящей статье представлен обзор актуальной международной литературы по данному вопросу, а также описан клинический случай первого пациента мужского пола с рецидивирующими ангиоотёками и подтверждённой результатами расширенного генетического обследования мутацией в гене миоферлина.

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