Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2021; 20: 125-133
Анализ семейных случаев первичных иммунодефицитов в контексте генетического консультирования
https://doi.org/10.24287/1726-1708-2021-20-4-125-133Аннотация
Первичные иммунодефициты (ПИД) обусловлены дефектами в генах, контролирующих работу иммунной системы. Мутации могут возникать de novo или передаваться по наследству. Частота семейных случаев ПИД варьирует в различных популяциях и зависит от множества факторов. Целью данного исследования стал анализ семейных случаев ПИД пациентов детского возраста НМИЦ ДГОИ им. Дмитрия Рогачева. Данное исследование одобрено независимым этическим комитетом и утверждено решением ученого совета НМИЦ ДГОИ им. Дмитрия Рогачева. Ретроспективно проанализированы 1075 детей с генетически подтвержденным диагнозом ПИД. У 146 детей выявлен хотя бы 1 родственник с тем же диагнозом, мутации локализованы в 31 гене, ответственном за развитие ПИД. Частота семейных случаев составила 13,6%. Доля семей, где больны 2 детей и более, составила 5,4%. В семьях с больными сиблингами преобладают ПИД с аутосомно-рецессивным типом наследования, при этом в большинстве случаев родители не являются кровными родственниками. Пациенты, рожденные от близкородственного брака, составляют 3% от общей когорты. В семьях, где больны и взрослый, и ребенок, преобладают ПИД с аутосомно-доминантным типом наследования. Принимая во внимание высокую частоту семейных случаев, всем родителям пациентов и взрослым детородного возраста с ПИД показано семейное генетическое консультирование в кратчайшие сроки после постановки диагноза. Для пациентов с генетически неверифицированным диагнозом ПИД показан незамедлительный поиск молекулярно-генетической причины заболевания для возможности проведения пренатальной/ преимплантационной диагностики в семьях и обследования кровных родственников.
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Pediatric Hematology/Oncology and Immunopathology. 2021; 20: 125-133
Analysis of familial cases of primary immunodeficiency in the context of genetic counseling
https://doi.org/10.24287/1726-1708-2021-20-4-125-133Abstract
Primary immunodeficiencies (PID) are caused by defects in genes of immune system. The mutations may occur de novo or can be inherited. The frequency of familial PID cases varies in different populations and depends on multiple factors. The aim of this study was to analyze familial PID cases among pediatric patients from NMRCPHOI D. Rogachev. The study was approved by the Independent Ethics Committee and the Scientific Council of the D. Rogachev NMRCPHOI. 1075 children from 1020 families with molecular PID diagnosis were analyzed retrospectively. One hundred and forty-six children had at least one relative with the same disorder; mutations were identified in 31 PID’s genes. The frequency of familial cases was 13.6%. The proportion of families with two or more affected children was 5.4%. Patients born in a consanguineous marriage made up 3% of the observed children. Autosomal dominant PID were typical for families with affected adult relatives. Because of the high amount of familial cases, all parents of children with PID as well as adult PID patients of childbearing age should seek a familial genetic counselling immediately after the corresponding diagnosis. Patients whose PID diagnosis has not been genetically verified, should be urgently tested to find an underlying molecular genetic cause of the disease. Prenatal/preimplantation diagnostic and screening of their close relatives are very important in these families.
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