Clinical characteristics of hereditary and congenital nephropathies

  • Clinical characteristics of hereditary and congenital nephropathies

    Clinical syndromes in these diseases deserve special consideration. Hereditary and congenital diseases of the kidneys differ in a marked variety of clinical manifestations, even within the same pathology among members of the same family. However, they are characterized by some common symptoms, which are manifested much more often than with acquired kidney diseases. For hereditary and congenital nephropathies, randomness of detection, tendency to progression of the disease with early reduction of renal functions( up to the development of chronic renal failure) is characteristic. When conducting a comprehensive survey for the early detection of hereditary kidney diseases in families with urine pathology in the excretory system, it was found that the initial manifestations of pathology are a decrease in the tone of blood vessels, repetitive pain in the abdomen, and the appearance of blood in the urine. Aiming nephrological examination performed in groups of children isolated after selective clinical screening, regardless of whether they had changes in urinalysis, revealed a pathology of the urinary system, more than 20 times the frequency of data based on urinary screening tests. Children from families with kidney diseases, children with recurring abdominal pain, high or low blood pressure, and multiple( 5 or more) external small development abnormalities were included in the group to be screened selectively. Almost 5 times more often, congenital and hereditary diseases of the kidneys and organs of the urinary system were diagnosed. Analysis of data obtained during selective screening showed that if the child has at least two signs selected for selective screening, the probability of detecting the pathology of the organs of the urinary system is close to 90%.

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    At present, it can be considered proven that when diagnosing a hereditary or congenital kidney disease, the characteristic of the spectrum of diseases that are established in the immediate relatives of the examined person is of great importance. The most significant of them is the presence of diseases of the organs of the urinary system. No less important is the unfavorable course of pregnancy. In the child, manifestations of such a problem can be multiple small anomalies and low blood pressure, although these signs are not specific for renal pathology. Small developmental anomalies are more or less pronounced in all patients with congenital and hereditary kidney diseases.

    The renal failure syndrome may be the first clinical expression of a pathology that attracts the attention of a physician in certain hereditary and congenital kidney diseases. This is largely due to the possibilities of the peculiarly flowing compensatory-adaptive reactions. In children with hereditary and congenital kidney diseases, the development of renal insufficiency may be due not only to the degree of sclerosis of the kidney tissue, but also to the inherent inferiority of this or that nephron department, the structural and functional unit of kidney tissue.

    Urinary syndrome( changes in urinalysis) has, as a rule, a diverse character. However, in a number of patients, especially in the presence of anatomical abnormalities of the urinary system and( or) their underdevelopment, in the early stages of the development of the disease, changes in the urine may be absent altogether. Of the various manifestations of urinary syndrome, the earliest is hematuria, that is, the appearance of blood in the urine.

    Osteal syndrome occurs with hereditary and congenital kidney disease during the layering of immune damage or in the development of chronic renal failure.

    An exception is congenital nephrotic syndrome associated with the formation of small cysts( Finnish type), as well as family nephrotic syndrome, which is often first manifested in the first months of a child's life and is not morphologically associated with cystic kidney regeneration.

    Hypertensive syndrome( increased blood pressure) may be an early manifestation of such diseases as oligomeganefronia, segmental hypoplasia( Asc-Apmark disease).The hard-to-treat hypertension, revealed in the first years of life, is associated with impaired renal vessel development. There may be a combination of causes leading to the development of hypertension.

    A characteristic of the development of vascular reactions in congenital, as well as hereditary nephropathies is persistent hypotension.

    An anxiety signal of congenital or hereditary diseases of the urinary system is the presence of abdominal pain, which can be a manifestation of both anatomical abnormalities( for example, the upper urinary tract and kidneys) and functional disorders of urination, which is an external manifestation of increased tone of the sphincter of the bladder.

    Syndromes of intoxication( pallor of the skin and mucous membranes, lethargy, muscle hypotension, lack of appetite) are characteristic of patients with hereditary and congenital nephropathies. Clear parallels with the commonly identified clinical signs of kidney disease can not be done.