Clinical characteristics of hereditary and congenital nephropathies

August 12, 2017 17:51 | Genetic Diseases

Clinical syndromes in these diseases deserve special consideration.Hereditary and congenital kidney diseases characterized by expression of the diversity of clinical manifestations, even within the same disease in members of the same family.However, they are characterized by some common symptoms that occur much more frequently than with acquired renal disease.For hereditary and congenital nephropathy is characterized by a coincidence detection, susceptibility to disease progression with early decline in kidney function (up to the development of chronic renal failure).During the comprehensive examination for early detection of hereditary kidney disease in families with abnormal urine excretory system it was found that the initial manifestations of disease are reducing the tone of blood vessels, recurring abdominal pain and blood in the urine.Targeted nephrology survey conducted in groups of children isolated after selective clinical screening, regardless of whether they have changes in urinalysis revealed

abnormalities of the urinary system, more than 20 times the frequency data based on urinary screening tests.The group to be selectively screened were classified as children from families with kidney disease, children with recurrent abdominal pain, high or low blood pressure, as well as with multiple (5 or more) external small anomalies of development.Almost 5 times more often diagnosed congenital and hereditary diseases of the kidneys and urinary organs.Analysis of the data obtained during the selective screening showed that the presence of the child at least two features selected for the selective screening, the probability of detection of pathologies of the urinary system approaches 90%.

Family history

can now be considered proven that the diagnosis of hereditary or congenital kidney disease is very important characteristic of the spectrum of diseases which are established in the immediate family of a human.The most significant of these is the presence of diseases of the urinary system.Not less important should be considered unfavorable for pregnancy.The child has symptoms of this trouble can serve multiple small abnormalities and low blood pressure, although these symptoms are not specific to kidney disease.Small malformations more or less pronounced for all patients with congenital hereditary diseases and kidney.

Syndrome renal insufficiency may be the first clinical expression of the disease, which attracts the attention of the doctor in some hereditary and congenital kidney diseases.This is largely due to the features peculiar occurring compensatory-adaptive reactions.At the same time in children with hereditary and congenital kidney disease renal failure may be due not only to the degree of sclerosis of renal tissue, but also with a congenital deficiency of a particular department of the nephron - structural and functional unit of the kidney tissue.

urinary syndrome (changes in urine analysis) is usually varied.However, in some patients, especially in the presence of anatomical abnormalities of the urinary system and (or) their underdevelopment, in the early stages of the disease in the urine changes may be absent altogether.Of the various manifestations of urinary syndrome is the earliest hematuria, t. E. The appearance of blood in the urine.

edema syndrome occurs in hereditary and congenital diseases of the kidneys in Layering immune destruction or the development of chronic renal failure.

exception is congenital nephrotic syndrome associated with the formation of small cysts (Finnish type), as well as family nephrotic syndrome, which usually first appears in the first months of life and morphologically linked with cystic degeneration of the kidneys.

hypertensive syndrome (high blood pressure) may be an early manifestation of diseases such as oligomeganefroniya, segmental hypoplasia (Ask-Apmarka disease).Difficult to treat hypertension is detected in the first years of life is associated with impaired renal vascular development.It may be a combination of reasons, and leading to the development of hypertension.

peculiarity of vascular reactions at birth, as well as hereditary nephropathy is persistent hypotension.

alarming signal of congenital or hereditary diseases of the urinary system is the presence of abdominal pain, which may be a manifestation of how anatomical abnormalities (eg, upper urinary tract and kidneys), and functional disorders of urination, which is the external manifestation of the increased tone of the sphincter of the bladder.

intoxication syndrome (pallor of the skin and mucous membranes, lethargy, hypotonia, lack of appetite) are characteristic of patients with hereditary and congenital nephropathies.Clear parallels with usually detectable clinical signs of kidney disease can not hold.