Polycystic kidney disease in children

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 failure, it is often detected in fetuses with ultrasound diagnosis of congenital malformations. It is characterized by the presence in the renal tissue of multiple cysts, which can appear or show up at different age periods. The disease has a progressive course, the outcome is chronic renal failure.

The most common is the division of polycystic disease into an autosomal recessive type, which is more common in newborns and young children, often in combination with liver fibrosis, and an autosomal dominant type of inheritance that is clinically manifested more often after 30 years. Polycystic can be one of the clinical manifestations of multiple developmental anomalies, such as Meckel or Celeveger syndrome.

Autosomal dominant type of polycystic disease The disease has no clinical manifestations in childhood, the development of the disease is usually observed in people aged 30-40 years. The main clinical manifestations: the discharge of blood with urine( hematuria), pain in the kidney area, a fairly frequent companion is hypertension. Cystic renal transformation is detected by ultrasound, confirmed by computer tomography. It should also be noted that excretory pyelography reveals signs that suggest the presence of cysts in the kidney tissue.

In its majority, the cystic transformation affects the proximal tubules, but it is possible to detect cysts in other parts of the nephron. Usually, the disease progresses slowly and leads to the formation of chronic kidney failure after 40 years of age. According to the European Association of Dialysis and Transplantation, the autosomal dominant type of polycystic disease is one of the most common causes among hereditary diseases that necessitate replacement therapy for chronic renal failure in adults.

Parallel use of ultrasound for the timely detection of cysts in the renal tissue and the use of molecular hybridization methods for the detection of a mutant gene in people with a presumed presence of the disease have indicated a high degree of correlation, which makes ultrasound mandatory and highly informative in families where there are patients with autosomal dominant typepolycystic disease( AIDB).

It is often described a combination of polycystic disease with the presence of stones in the urinary system. Possible stratification of infection of the urinary system.

Polycystic kidney with autosomal recessive type of inheritance( arp)

Disease is rare. This variant of polycystic disease in newborns can be combined with respiratory distress syndrome. Outwardly, children have many small abnormalities of development, with a feeling of the stomach reveals sharply enlarged kidneys. With a moderate severity of the disease, the child gradually develops hypertension, portal hypertension syndrome, chronic renal failure. Enlarged kidneys are well detected during ultrasound examination, excretory urography. However, due to their small size, cysts are usually not visualized.

There is a change in the nature of echogenicity, and with radiopaque examination of the kidneys, accumulation of contrast material in collecting tubes can be detected. The dimensions of the liver are enlarged, changes in the intrahepatic bile ducts with periportal fibrosis are morphologically determined. Progression of the disease, as well as the development of chronic renal failure are associated with the formation in the first year of life hyponatremia and hypertension.

Another variant of autosomal recessive polycystic kidney disease occurs at the age of about 2 years, but is often referred to as congenital liver fibrosis with kidney damage. It is also called juvenile polycystosis of the liver, kidneys, pancreas. The prevalence in the clinical picture of the symptomatology from one of the cystically altered organs determines its development.

For autosomal recessive polycystic kidney disease, type I is characterized by Potter's type of cystosis, when cysts are localized primarily in the cortex, but may also be located in the brain substance of the kidneys.

In autosomal recessive disease, which is recognizable in a child, kidney examination in the parents does not reveal any deviations. Suspicion of this disease should occur if the child has congenital liver fibrosis. To establish the correct diagnosis, Meckel syndrome, Rong syndrome, retinalnoralnaya dysplasia, Ivemark syndrome, and many other syndromes should be excluded.

Isolated cystic renal dysplasia can be observed as an independent pathology with the risk of repeated manifestation in the family, not exceeding 10%.This indicates a genetic heterogeneity of the anomaly.

Detection of dysplastic changes in the kidneys of parents significantly increases the risk of re-birth of a sick child and requires the elimination of a number of syndromes.

Nomenclature of hereditary and congenital diseases of the kidneys and urinary tract

I. Nephropathy and uropathy in anatomical abnormalities of the structure of the kidneys and urinary organs:

1) Kidney defects:

a) Quantitative( absence, underdevelopment, additional kidneys);B) positional( incorrect arrangement, omission, rotation);C) formal( horseshoe, S- and L-shaped kidneys);

2) malformations of ureters( change in quantity, caliber);

3) abnormalities of the structure of the bladder and urethra;

4) abnormalities in the structure and location of renal vessels;

5) abnormalities of the innervation of the urinary system with neurogenic bladder syndrome.

II.Disturbances in the development of renal tissue:

1) cystic:

a) polycystic disease( autosomal dominant, autosomal recessive variants);B) Fanconi nephronophytosis;Seniors syndrome;C) Finnish type of congenital nephrotic syndrome;D) other types of cystic disease;

2) non-cystic tissue dysplasia( developmental disorders):

a) oligonephronia( oligomeganephronia);

b) segmental dysplasia( Asck-Apmark disease);

c) nephropathies associated with hypoplastic dysplasia;

3) reflux-nephropathy.

III.Hereditary nephritis:

1) without hearing loss;

2) with deafness( Alport syndrome).

IV.Tubulopathies:

1) Primary:

a) with polyuria( renal insipid diabetes);

b) with deformation of bones( phosphate-diabetes, de Toni-Debreu-Fanconi disease, renal tubular acidosis);2) secondary: with hereditary pathology of metabolism.

V. Dismetabolic nephropathies with crystalluria:

1) cystinuria, cystinosis;

2) oxalate nephropathy;

3) urate( gouty) nephropathy, uracid diathesis.

VI.Nephro- and uropathy in chromosomal diseases.

VII.Amyloidosis: hereditary.

VIII.Embryonic tumors( including Wilms tumor).