From Big Medical Encyclopedia

INBORN DISEASES — group of morbid conditions, emergence to-rykh it is connected or with disturbances of separate stages of process of pre-natal development, or with creation of certain morphological, biochemical and other premises for display of a disease soon after the birth.

Century. are subdivided on hereditary (see. Hereditary diseases ) and not hereditary. Gene, chromosome and genomic mutations can be the cause of emergence of hereditary diseases (see. Mutation ), and not hereditary — various factors of surrounding and internal environment (infectious., physical, chemical), the pregnancies operating throughout the period. In nek-ry cases would allocate family V., if similar inborn pathology is found in several members of one family. However and in this case V. can be caused as manifestation of the mutant gene inherited in this family and influence on development of several members of the family of the same harmful factor of the environment. Sometimes what is especially characteristic of inborn malformations (see), not hereditary factors cause the pathology similar caused by nek-ry mutant genes (phenocopying). Therefore hereditary and not hereditary V.' differentiation. it can be carried out only after medicogenetic inspection (see. Medicogenetic consultation ).

Absolute majority of V. it is connected with kimatopatiya (i.e. pathologies of embryonal development), to-rye do not lead, however, to death of a germ or fruit. Depending on time of manifestation in V.'s ontogenesis. can be carried to group of embryopathies — pathology of a germ from 4 weeks prior to the beginning of the IV month of an antenatal life (see. Embryopathies ) or fetopathies — pathology of a fruit since IV month of pregnancy and until childbirth (see. Fetopathies ).

V.'s range. it is extremely wide: diseases with preferential defeat of certain fabrics, bodies or systems of bodies, numerous V. a metabolism — so-called. enzymopathies (see). So, e.g., the pentosuria, a fruktozuriya, various glycogenoses are connected with disturbances of carbohydrate metabolism; a fenilketonuriya, an alkaptonuria, albinism, a giperglitsinemiya — V. amino-acid exchange; numerous group lipoidoses (see) it is connected with disturbances of lipidic exchange etc.

Pathogeny Century. it is caused by disturbances of separate stages of the difficult and interconnected processes of an ontogeny. The pathogeny of separate forms B. would be studied. on model objects, a thicket mice and rats, at to-rykh a disease exist or can be caused artificially.

Nevertheless origins of many V. remains yet not clear.

Treatment Century. can include a dietotherapy (at nek-ry forms of disbolism), symptomatic therapy, replacement therapy (e.g., at hemophilias, hormonal diseases, etc.) or a complex of the surgical actions directed to correction of separate forms of inborn malformations.

Prevention Century. provides medicogenetic consultation for hereditary diseases and antenatal prevention (see. Antenatal protection of a fruit ) for not hereditary diseases.

Bibliography: B. V. grooms. Biological modeling of hereditary diseases of the person, M., 1969, bibliogr.; Stephenson A. and Davidson B. Medicogenetic consultation, the lane with English, M., 1972; Efroimson V. P. Introduction to medical genetics, M., 1968; Congenital malformations, ed. by F. Page of Fraser and. V. A. McKusick, Amsterdam — N. Y., 1970; McKusick V. A. Mendelian inheritance in man, Baltimore, 1971.

E. K. Ginter