Darya-White disease is a relatively rare hereditary disease. It is inherited by an autosomal dominant type. Both sexes are affected with the same frequency. The mechanism of the development of...

This is a heterogeneous group of hereditary diseases that are characterized by thickening of the surface layer of the skin of the palms and soles. Such a change in the skin can be common or lo...

This is also a heterogeneous group of hereditary keratinizing diseases, differing in the appearance of symptoms, the method of inheritance, and also the attendant symptoms. A common symptom of...

Ultrasound examination At present, for the additional examination of a pregnant woman, the most widespread distribution has been a simple and accessible ultrasound method - ultrasound. H...

Primary hyperoxaluria is a hereditary metabolic pathology characterized by periodic exacerbations, oxalate-calcium nephrolithiasis( kidney stones), which gradually leads to chronic renal fai...

1. Disorders of ADH secretion. 1.1.Pathology of osmoreceptors. 1.2.Violations of the synthesis of ADH. 1.3.Accelerated decay of ADH. 2. Loss of thirst. 2.1.CNS lesion...

Isolated stenosis( narrowing) of the pulmonary artery is one of the most common congenital heart defects and accounts for 6.8-9% of all heart defects. This pathology is equally common in boys ...

This disease has been described by many researchers as a pathology of the musculoskeletal system, manifested by low growth, shortening of the neck and trunk, curvature of the spine according t...

Renal cysts in children are quite common. Cystic disease( polycystosis) of the kidney among hereditary diseases occupies an essential place: it is observed in 5-10% of patients with chronic renal...

This disease belongs to the group of diaphyseal dysplasia of the bone system. Typical signs of imperfect bone formation are frequent fractures. Upon closer examination of such a person, one can n...

Among all hereditary glomerulopathies, the most studied and relevant to date is hereditary nephritis, including Alport syndrome. This disease is very common in most regions of the world and has a...

If it became clear from the foregoing what the genes are doing, it should also be clear that a change in the structure of the gene, the sequence of nucleotides, can lead to changes in the protein...

Anomalies of the location of the heart can be the result of both the incorrect development of the heart itself and be formed under the influence of extracardiac( out-of-cardiac) causes. ...

Aortic stenosis is a congenital heart disease accompanied by deformation of valve flaps and( or) constriction of the aortic aperture. With aortic stenoses, the myocardium( muscle shell) of...

The tetralogy of Fallot refers to the most common heart defects of the blue type. It accounts for 12-14% of all congenital heart defects and 50-75% of blue malformations. The first description...

A fairly large number of hereditary diseases due to DNA changes are known, but they do not have the Mendelian character of inheritance. Below we will consider mitochondrial inheritance of and m...

Diseases with hereditary predisposition have differences from gene diseases, which consist in the need to influence the human body environmental factors, so that these diseases are manifest...

The heart is the central organ of the cardiovascular system of any living organism. It is a muscular organ that consists of two atria and two ventricles( right and left).The atria are located abo...