medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLCmedgen-199Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHСравнение фенотипических проявлений периодической болезни у гетерозиготных носителей мутаций гена MEFV и гомозигот по тем же мутациямPhenotype-genotype comperative charactristics of FMF heterozygous patients with the homozygous patients for the same mutationsАйрапетянА. С.HayrapetyanH. S.tamsar@sci.amСаркисянТ. Ф.SarkisianT. F.noemail@neicon.ruАтоянС. А.AtoyanS. A.noemail@neicon.ruЦентр медицинской генетики и первичной охраны здоровья; Ереванский Государственный Медицинский Университет им. Мхитара ГерациРоссияCenter of Medical Genetics and Primary Health Care; Yerevan State Medical University after Mkhitar HeratsiRussian Federation20163001201715104549Copyright © Айрапетян А.С., Саркисян Т.Ф., Атоян С.А., 20172017Айрапетян А.С., Саркисян Т.Ф., Атоян С.А.Hayrapetyan H.S., Sarkisian T.F., Atoyan S.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/199

Семейная средиземноморская лихорадка (ССЛ) - наиболее распространенное аутовоспалительное заболевание, относящееся к периодическим наследственным лихорадкам. ССЛ характеризуется эпизодами лихорадки, продолжающимися 2-3 дня, которые повторяются в среднем каждый месяц, периодическими приступами асептического перитонита, абдоминалгией, торакалгией, полисерозитами разной локализации, артритом и иными симптомами. ССЛ - моногенное заболевание, в большинстве случаев с аутосомно-рецессивным типом наследования. В популяциях с часто встречаемой ССЛ описаны случаи симптомокомплекса ССЛ у гетерозигот. Цель настоящей работы - сравнить фенотипические проявления ССЛ у пациентов-гетерозигот и гомозигот по наиболее частым мутациям в армянской популяции.

Familial Mediterranean fever (FMF) is the most common autoinflammatory disease of Hereditary periodic fevers. FMF is characterized by attacks of periodic fever, aseptic peritonitis, abdominalgia, thoracalgia, arthritis, and other symptoms, typically lasting 2-3 days, once a month in average. FMF is monogenic disease with autosom-recessive type of inheritance in most cases. Although in populations with high frequency of FMF there is evidence of clinical manifestations among heterozygous patients. The aim of this study is to show our comparative data on FMF phenotypic manifestations among heterozygous and homozygous patients with the most common mutation in Armenian population.

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