Among all hereditary glomerulopathy most studied and relevant for today is hereditary nephritis, including Alport syndrome.This disease is very common in most regions of the world and has a description of the representatives of different nationalities.
hereditary nephritis, filed by the Department of Nephrology Research Institute of Pediatrics and Pediatric Surgery, Ministry of Health of the Russian Federation, on the long-term observations at different times of 6-8% of the total number of patients with kidney disease.
In the light of modern medicine hereditary nephritis is a genetically caused preimmune glomerulopathy characterized by the release of blood in the urine (hematuria) and protein excretion in the urine, host a tendency to progression before the development of chronic renal failure.This pathology is often combined with a hearing and sight disorders.
disease is manifested both genetically and clinically diverse.In the presence of certain symptoms in the clinical picture of the disease was i
One of the most comprehensive choices of classification may be considered hereditary nephritis clinical and pathological classification, presented at the XXII Congress of Pediatric Nephrology Europe.
According to this classification allocate:
1) Alport syndrome, which is characterized by a combination of progressive hematuric jade, neurogenic type of hearing loss and visual impairment.There are clinical variants, including a combination of jade with blood disorders (thrombocytopenia);
2) hereditary nephritis without hearing loss - a progressive disease in its development.Electron-microscopic examination of renal biopsy is characterized by thinning insulated basement membrane;
3) the so-called benign familial essential hematuria in which renal insufficiency does not develop.Immunological study of basal membranes revealed a decrease in their antigenic characteristics.
genetic aspects of the disease
There are several hypotheses about the features of inheritance Alport syndrome.The following assumptions:
1) dominant inheritance with partial adherence to the floor;
2) preferential segregation (autosomes with the mutant gene from the X chromosome);
3) dominant, sex-linked inheritance (in some families marked the transfer of the disease from his father's son);
4) impact modifier gene (autosomal dominant inheritance with a dominant gene, a modifier on the X chromosome);
5), an autosomal dominant inheritance with reduced penetrance gene in the male offspring of the sick fathers.
From a genetic point of view 4 features were analyzed:
1) the existence of a family of hematuria and chronic renal failure;
2) the presence of renal typical electron-thin membranes;
3) the severity of ocular changes;
4) the presence of high-pitched hearing loss.
proved that the presence in a family of 3 signs of the 4 disease is transmitted by the dominant, adhered to the X chromosome.This option is considered a classic.The patient's father healthy sons and daughters - the carriers of the mutant gene.
In Alport syndrome, most patients found no Goodpasture antigen, but this feature is secondary.This phenomenon is characterized by the possibility of antigenic structures of autoimmune glomerulonephritis in transplanted kidneys.
Alport syndrome frequency in the population is not certain.Although Alport syndrome mutated gene is identified, its display mechanism remains unclear.
disease should be noted that the disease is much easier in female cases than in males.Also women hereditary nephritis rarely combined with hearing loss.It should be noted that a sufficiently serious threat the disease during pregnancy.In most cases, women suffering from this disorder, pregnancy toxicosis occurs quite frequently reported spontaneous abortions, stillbirths.
Clinical manifestations of the disease may occur at any age.With timely and rational examination of families burdened filed pathology, discharge of blood in the urine is often detected in the first months of life.The disease occurs in secret, revealed an isolated urinary syndrome, often in the form of the appearance of red blood cells and a small amount of protein in the urine (red blood cell and mikroproteinemiya respectively).Often there is not associated with bacterial lesions leucocyturia (appearance of white blood cells in the urine).Most of the children is determined by a number of external and physical minor anomalies of development.Characteristic symptoms of intoxication and hypotension.The latter is connected to a certain degree from the adrenal cortex dysfunction.
Alport syndrome clinically indistinguishable from another version is the presence of hereditary nephritis neuritis of the auditory nerve, but its presence can be detected at the earliest audiometric study 7-8-year age of the child.The pathology of the organ of vision, a variety of cataract found in one fifth of the persons suffering from this disease.Pronounced thrombocytopenia syndrome (reduced platelet count) observed in children in the clinic have been detected, but it was present in some of them.In the case of closely related marriages in children may be a gross malformations, "palate", "cleft lip", congenital heart disease.It is in such families may experience a combination of hereditary nephritis with another, including genetically determined, pathology - pituitary dwarfism (short stature), thalassemia, hemolytic anemia of unknown origin.As a rule, in hereditary nephritis have been some neurological symptoms and signs of vascular dystonia.
Reduced renal function with Alport syndrome occurs already at preschool age.In prepubertal and particularly adolescence (puberty) may appear homeostatic disorders, which can be regarded as an early stage of chronic renal failure.The earliest and characteristic features are metabolic acidosis (blood pH shift of the acid side), and violation of the electrolyte balance in the body (dizelektrolitemiya).The development of the full range of symptoms of chronic renal failure is typical for people who have reached the age of majority.Prior to the application of replacement therapy and kidney transplantation death usually occurs on the 4th decade of life.
treatment. specific method of treatment is not hereditary nephritis.The use of corticosteroids, immunosuppressive agents, indomethacin is contraindicated.
FEELING BETTER, reducing signs of intoxication, a reduction of hematuria manifested in children who were treated with ATP, kokarboksilazu, vitamin B6.In some cases, a similar result was obtained using Retabolilum in age doses.
recommended symptomatic therapy, prophylaxis of opportunistic diseases.Renal transplantation in patients with hereditary nephritis in a stage of chronic kidney disease can be carried out without prior chronic hemodialysis.