Hereditary kidney disease
Currently, hereditary and congenital kidney diseases are a major cause of disability in children and adults.More than 70% of all cases of chronic renal failure is caused by such diseases.Over 50% of children and 15% of adults fed to substitution therapy in hemodialysis centers due to hereditary diseases kidneys.
Long-existing notions of incurable hereditary and congenital kidney disease changed in recent years.This applies above all to the birth uropathy correction which was made possible thanks to the success of pediatric surgery.No less meaningful diagnosis of hereditary kidney disease in early childhood period, namely during the first month of life.polycystic disease recognition technology is already out on the position of wide practical application.Implement effective kidney transplantation for children with Finnish type congenital nephrotic syndrome.At the same time there are reports of a complete functional rehabilitation of children who have reached the age of post-transplant four years or more
Hereditary nephropathy - a term used mainly in relation to kidney disease, monogenic inherited, where the only cause of the pathology is a mutation of the gene.Their frequency among kidney disease is about 9%.
Hereditary defects can occur at various levels of the nephron, which is the basic structural unit of the structure of the kidney tissue.Hereditary glomerulopathy is a primary lesion of the kidneys, in which mainly affected glomerular apparatus.The classic manifestation of glomerulopathy is hereditary nephritis and Alport syndrome.Primary lesion with primary renal tubular damage often caused by dysfunction of enzyme systems which are located in this region of the kidneys, as well as problems of tubular transport of various products of metabolism that leads to the development of pathological processes and states denoted as tubulopathy.
term "familial nephropathy" is used in the presence of the same type of kidney disease in several members of one family, most of these diseases are genetically determined.However, this does not exclude the family acquired diseases when they are associated with exposure to environmental factors homogeneous family (adverse living conditions, loss of several family members of pathogenic bacteria - streptococcus).But even in these cases the probability of the formation of kidney disease is determined largely by the presence of a genetic predisposition.
Under congenital kidney disease refers to those whose symptoms are detected in the neonatal period.However, a large number of birth defects can occur many years after birth.Special research methods still manage to antenatal identify the various types of disruption of kidney development.Congenital diseases are associated with hereditary teratogen (an adverse effect on the fetus in utero) factors acting as a rule, against the background of existing genetic predisposition.Not all hereditary kidney disease are considered to be congenital, due not only to the late onset of symptoms, characteristic for them.This applies primarily to those forms of disease, which are formed with strong or dominant (dominant) the impact of environmental factors.Polygenic inherited abnormality detected in human growth and development, although the gene mutation, as well as the consequent lack of structural proteins or enzymes, already exists on fetal stages of child development.A special group of multifactorial diseases of kidneys, which are caused by exposure to viruses, bacteria and protozoa.toxic nephropathy and drugs are also considered separately, manifested in individuals with relevant genetic disorders or abnormalities of the immune system.
special group of nephrotoxicity and uropathies comprise diseases associated with chromosomal abnormality.
to chromosomal diseases or syndromes are diseases caused by genomic or structural abnormalities.They are not heritable, though are genetically caused diseases.Chromosomal diseases are characterized, as a rule, multiple malformations of various organs.The frequency of kidney and urinary organs lesions in a number of chromosomal disease can be quite high (in particular, in trisomy of chromosomes).In trisomy of chromosome 21, the loss of the long arm of chromosome 18, the frequency of malformations of the urinary system is greater than the frequency of similar anomalies of the urinary system in the population.
As a rule, changes in the kidneys and urinary tract symptoms are not leading a chromosomal disease, and they are far from being the cause of an unfavorable outcome of the disease, although there are exceptions.
In recent years, due to the introduction into clinical genetics research of new methods that allow you to identify the mutation at the DNA level, obviously, it will be possible to identify the smallest anomaly of chromosomes, which are unable to identify the old methods of diagnosis.It can be expected that new methods will help clarify the reasons of anatomical and structural abnormalities of various organs, including the kidney.However, already now should focus on a few tens of chromosomal syndromes in which there are various anomalies of the kidney and urinary organs structure.
All hereditary pathology of the kidney can be divided into several large groups.The first group comprises severe anatomical abnormalities such as congenital absence of kidney, horseshoe kidney, or other anatomical abnormalities of the urinary system.Most often it is a congenital urological defects.The second group consists of diseases associated with structural changes in the kidney tissue.Most of them is based on a transformation of cystic renal tissue.The third group of hereditary renal disease occurs with the pathology, which is slowly developing, leading to kidney failure.The fourth group includes pathology of exchange at which leading is a violation of the functional ability of the kidneys, while the anatomical and structural changes in the kidney tissue is minimal.