Аннотация:
Atypical hemolytic-uremic syndrome is a rare life-threatening disease from the group of thrombotic microangiopathies, caused by the hyperactivation of the complement system. In the most cases it is associated with genetic disorders in the cluster of complement genes. Currently, a large number of different variants of the complement system genes associated with the development of aHUS are described in different countries. In our country, data on the genetic features of pediatric aHUS patients and obstetric aHUS have been published. Genetic changes in the complement system in adult aHUS patients in Russia were not so far presented. Aim: studying the genetic profile of the complement system in adult patients with aHUS. Materials and methods. The study included 20 patients with aHUS: 9 men (45[%]) and 11 women (55[%]). All patients underwent molecular-genetic analysis (search for mutations in the clinically significant part of the human genome − exome) by sequencing (Genotek laboratory). Genes
Демьянова К. А. Ксения Андреевна 1983-
Козловская Н. Л. Наталья Львовна 1951-
Боброва Л. А. Лариса Александровна 1977-
Коротчаева Ю. В. Юлия Вячеславовна 1973-
Акаева М. И. Мариам Измаиловна 1987-
Шаталов П. А.
Коростин Д. О.
Илинскy В. В.
Борисевич Д. И.
Красненко А. У.
Dem`yanova K. A. Kseniya Andreevna 1983-
Kozlovskaya N. L. Natal`ya L`vovna 1951-
Bobrova L. A. Larisa Aleksandrovna 1977-
Korotchaeva Yu. V. Yuliya Vyacheslavovna 1973-
Akaeva M. I. Mariam Izmailovna 1987-
Shatalov P. A.
Korostin D. O.
Ilinsky V. V.
Borisevich D. I.
Krasnenko A. U.
The genetic characteristics of adult patients with atypical hemolytic uremic syndrome in Russia
Текст визуальный непосредственный
Нефрология и диализ
Российское диализное общество
Т. 20, Вып. 1 С. 41-47
2018
Статья
Atypical hemolytic-uremic syndrome Genetic variants of the complement system Thrombotic microangiopathy
Atypical hemolytic-uremic syndrome is a rare life-threatening disease from the group of thrombotic microangiopathies, caused by the hyperactivation of the complement system. In the most cases it is associated with genetic disorders in the cluster of complement genes. Currently, a large number of different variants of the complement system genes associated with the development of aHUS are described in different countries. In our country, data on the genetic features of pediatric aHUS patients and obstetric aHUS have been published. Genetic changes in the complement system in adult aHUS patients in Russia were not so far presented. Aim: studying the genetic profile of the complement system in adult patients with aHUS. Materials and methods. The study included 20 patients with aHUS: 9 men (45[%]) and 11 women (55[%]). All patients underwent molecular-genetic analysis (search for mutations in the clinically significant part of the human genome − exome) by sequencing (Genotek laboratory). Genes