Diagnosis and treatment of pulmonarydisease in α1-antitrypsin deficiency: a statement of European Respiratory Society

Редакционная, статья

doi:10.18093/0869-0189-2018-28-3-273-295

Cited by 2 publications

(1 citation statement)

References 137 publications

(148 reference statements)

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“…Первым шагом в диагностике является измерение ААТ в плазме крови, что позволяет выделить больных с наиболее тяжелым дефицитом (ZZ, Znull, Nul/null и большинство лиц с вариантом SZ), М-гетерозигот с умеренным дефицитом (MZ, MS и Mnull) и пациентов с нормальным уровнем ААТ (вариант ММ). Следующими этапами являются генотипирование или секвенирование целого гена [41].…”

Section: дефицит α 1 -антитрипсина (оMim #613490)unclassified

Hereditary lung diseases and modern possibilities of genetic testing

Avdeev

Kondratyeva

Namazova-Baranova

et al. 2023

Pulʹmonologiâ (Mosk.)

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The European Respiratory Society website gives the following criterion for the disease to be classified as rare (orphan) - the disease occurs in 1 person per 2 000. One of the well-studied rare lung diseases is cystic fibrosis (CF), which is often considered a medical care model for patients with other orphan diseases. However, effective diagnostics and therapies have not yet been developed for many other rare diseases. Moreover, their true prevalence remains unknown because these diseases often go undiagnosed. One of the problems in diagnosing rare diseases is the lack of knowledge among physicians.The aim of this review is to provide a brief clinical and genetic description of rare hereditary lung diseases and to show modern genetic diagnostics to raise awareness among physicians. Data from 95 articles on hereditary lung diseases were used.Results. The results of the analysis of lung diseases associated with bronchiectasis, fibrosis, pneumothorax, and hereditary storage diseases are presented. Genetics and diagnostics, including the three-step molecular genetic testing for cystic fibrosis, are considered in detail. The diagnosis has been developed for both neonatal screening and clinical manifestations. The emergence of targeted therapy based on genetic diagnosis makes neonatal screening even more relevant and leads to an increase in life expectancy. A patient registry was established within 10 years. A detailed analysis of the diagnosis of primary ciliary dyskinesia (PCD) is given, taking into account the absence of a single “golden” standard for the diagnosis of PCD. The genetic basis of the most common hereditary diseases and modern possibilities of their diagnosis are discussed, including sequencing of genes responsible for the development of orphan diseases using standard Sanger sequencing methods and next-generation sequencing, and creating multigene panels.Conclusion. New molecular diagnostic methods will help to understand the nature of orphan lung diseases, study their epidemiology, and develop new diagnostic algorithms. The study of the genetic causes of rare diseases may serve as a basis for the development of targeted therapy.

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Section: дефицит α 1 -антитрипсина (оMim #613490)unclassified

Hereditary lung diseases and modern possibilities of genetic testing

Avdeev

Kondratyeva

Namazova-Baranova

et al. 2023

Pulʹmonologiâ (Mosk.)

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Distribution of human gene polymorphisms allele frequencies associated with viral infections

Vlasenko,

Chanyshev,

Dubodelov

et al. 2023

Problems of Virology

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Introduction. The design of studies aimed at finding the association between the genetic factor and the studied feature (disease) involves a comparison of the ratio of genotypes or allelic proportions in the study group with those in the control group. At the stage of determining the ratio of genotypes of the studied polymorphisms in the reference group, researchers meet a number of problems, which are the subject of the present work. Aim of the work is to provide scientific rationale for the feasibility of creating a national information system comprising genetic data of the relatively healthy population of Russia, incorporating its ethnic diversity. Materials and methods. The study group, total 1020 people, was genotyped for a number of single nucleotide polymorphisms of human genes. A comparative characteristic of the frequency distribution of the studied polymorphisms with those presented in international databases as reference data was carried out using χ2 index. Results. The frequency of SNP rs4986790 of the TLR4 gene significantly differs from the EUR population (p = 0.032) and the CEU subpopulation (p = 0.047). The allele frequencies of the rs1800795 (IL6) and rs1800896 (IL10) polymorphisms in the study population differ from the CEU subgroup (p = 0.030 and 0.012, respectively). The frequency of SNP rs2295119 (HLA-DPA2) in the study group is significantly different from the EUR population (p = 0.034). Conclusion. The analysis carried out in this work confirms the need to create a domestic information system containing data on the occurrence of SNP alleles and genotypes for a conditionally healthy population and in subgroups with various pathological conditions.

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Diagnosis and treatment of pulmonarydisease in α1-antitrypsin deficiency: a statement of European Respiratory Society

Cited by 2 publications

References 137 publications

Hereditary lung diseases and modern possibilities of genetic testing

Hereditary lung diseases and modern possibilities of genetic testing

Distribution of human gene polymorphisms allele frequencies associated with viral infections

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