Hereditary lung disease

August 12, 2017 17:51 | Genetic Diseases

gene mutation causes the onset of the disease is almost irrespective of the impact of environmental factors With the development of hereditary diseases.In contrast, the genetic defect in the lungs of multifactorial diseases implemented under the influence of a whole range of environmental factors.

classical model of polygenic inherited disease is asthma.Family burdened allergic diseases diagnosed in 50-86% of children suffering from bronchial asthma.It is established that the risk of the child's asthma disease in the presence of both parents suffering from higher than one of these diseases.

the presence of asthma in one of the parents in the family the risk of the patient first child increased by 12 times compared to population-wide performance;in the presence in the same family of children with asthma risk of subsequent children the disease increases by 20-25 times.In monozygotic twins the risk of asthma in many times greater than that of dizygotic twins.In

basis of asthma, as is known, are immune m

echanisms.The majority of people with asthma are detected specific antibodies to various allergens.High levels of specific antibodies is usually accompanied by a high content of total immunoglobulin E. A significant increase in serum immunoglobulin E content of blood - the hallmark of atopic asthma.The content of IgE in the blood in atopic asthma usually dramatically higher than normal.This confirms the view that, in the form of atopic asthma key role belongs to antibody-dependent type of allergic reactions.It is believed that the ability to produce antibodies (as well as factors that regulate their production) genetically programmed.

Hereditary predisposition has undoubted importance in the formation of chronic inflammatory lung diseases.It is known that relatives of patients with chronic bronchitis three times more likely to suffer from pulmonary disorders compared to the healthy members of the family.Installed high heritability factor for chronic obstructive bronchitis.

role of hereditary factors in the occurrence of chronic lung diseases is ambiguous.They clearly seen when the actual hereditary diseases, at least - in diseases with hereditary predisposition.The last group of diseases is the most common and has a significant impact on morbidity, limited availability of working age, leading them to a disability, and sometimes dramatic outcomes.Ways of prevention of these diseases are known.

basic principles of clinical examination of patients with chronic bronchopulmonary pathology is active early and their identification, registration, dynamic observation and treatment at stages polyclinic, hospital, nursing home.This is especially true of children, as in childhood, as a rule, and identify congenital and hereditary diseases.

spectrum of congenital and hereditary pathology of the lungs is quite wide.These diseases are characterized by a variety of clinical, originality flow, the nature of inheritance.However, while maintaining the basic principle of clinical examination of patients with chronic bronchopulmonary pathology.The main role in the clinical examination of sick children belong to primary care pediatrician.Physician Children's polyclinic identifies patients with chronic lung disorders, including hereditary and congenital lesions, and directs them to surveys in the pulmonary department and specialty hospitals.The modern complex instrumental, immunological, biochemical and other methods used in a well-equipped hospital allows to decipher some form of this disease.

After initial evaluation and the identification of persons with the disease congenital and hereditary pathology of the lungs should be under constant supervision of a local pediatrician, and pulmonary center.The frequency of inspection district pediatrician should be not less than 1 time in 1-2 months, and pulmonologist specialists - 1 every 3-4 months.At the same time carried out a dynamic control of the function of external respiration and the cardiovascular system.In the process of follow-up, not only in the hospital but in the home made treatment with antibiotics, especially in diseases such as cystic fibrosis, cystic disease, immunodeficiency, which often have continually relapsing (with periodic exacerbations) during the inflammatory process in the lungs.Implemented reorganization of other foci of infection.Special attention is paid to the maintenance and restoration of drainage function of the lungs (needed physiotherapy, postural drainage, chest compressions, with repeated courses of inhaled mucolytic drugs).

in the implementation of clinical examination of patients with bronchial asthma as the primary role belongs to the local doctor.Consultation offices allergy, pulmonology center allows the physician to decipher the form of the disease and to give recommendations on the management of the patient.Children with mild to moderate asthma, pediatrician examined at least 1 time per quarter, and allergy specialist's office - 1-2 times a year.In severe asthma should be observed on a monthly basis at the district pediatrician and 1 once a quarter - at the allergist.

One of the stages of treatment of patients with chronic lung pathology is a specialized pulmonology sanatorium.Thus it is necessary to emphasize that the selection of patients for referral to the spa treatment is a major problem.On treatment in specialized sanatoriums should not refer patients with severe respiratory failure (NAM II-III), hemoptysis, purulent intoxication.These persons are often in urgent need of skilled care, referral to the resort can lead to dramatic consequences.At all stages of follow-up is essential social rehabilitation.In this regard, extremely important it is the professional orientation of students.

Constant dispensary observation and periodic courses of treatment allow in many cases, to achieve the stabilization process, reduce the activity of bronchopulmonary infection with diseases such as Kartagener's syndrome, malformations, cystic fibrosis.

children with congenital and hereditary pathology of the lung are not removed from the register.Up to 15 years of age watch their local pediatrician and specialists pediatric pulmonary center, then they come under the supervision of physicians.The most severe patients with congenital and hereditary diseases are transferred to disability in childhood.

special place in the system of surveillance of persons with congenital and hereditary pathology of the lungs takes medical and genetic counseling.Medical and genetic counseling is aimed at the prevention of hereditary diseases, the prevention of birth of children with genetic defects.At the present time it is considered to be the most appropriate multi-level system of genetic counseling - from a total network of health care institutions to specialized genetic center.The basic principle of genetic counseling is to determine the degree of genetic risk for future offspring, and clarification of the parents.However, it must be emphasized that the fertility issues are resolved only family.

When genetic counseling is primarily determined by the risk of having a sick child, which depends on the nature of inheritance.Monogenic inherited pathology of the lung, as well as all monogenic diseases belong to diseases of high risk (1: 10).At the same time it should be noted that in the registry of diseases with autosomal dominant inheritance of the number of lung diseases is low (primary pulmonary hypertension, alveolar microlithiasis, diffuse idiopathic fibrosis).In this type of inheritance is usually the patient is one of the parents.The probability of inheritance of the mutant gene in these cases 50%.

Most hereditary lung disease is transmitted in an autosomal recessive manner.To this group belongs, and the most common genetic abnormality, occurring with lesions of broncho-pulmonary system: cystic fibrosis, primary ciliary dyskinesia and Kartagener syndrome.Parents of children at these sufferings can be healthy and are just carriers of the mutant gene.The risk of a sick child birth is 25%.

extremely difficult question of determining the inheritance at risk malformations bronchopulmonary system, since in some cases they may be a manifestation of monogenic inherited diseases, and sometimes - the result of adverse environmental effects.

Determination of the degree of risk with polygenic inherited diseases, in particular bronchial asthma, presents considerable difficulties for the development of the disease are important as the genetic predisposition and the influence of environmental factors.It is believed that a child's risk of the disease, being born after the patients is 14%, with the disease one of the parents - 31%, with the disease both parents - 70%.

further development of genetic counseling is inextricably linked to the development of prenatal diagnostic techniques.With respect to diseases of lungs a lot of attention paid to the possibility of prenatal diagnosis of cystic fibrosis, deficiency of a1-antitrypsin.Success in this regard is associated with the development of DNA diagnostics.