polycystic kidney disease in children

August 12, 2017 17:51 | Genetic Diseases

Renal cysts in children are quite common.Cystic disease (polycystic) among renal hereditary diseases occupies an important place: it is seen in 5-10% of patients with chronic renal failure, often detected in fetuses with ultrasound diagnosis of congenital malformations.It is characterized by the presence in the renal tissue of multiple cysts that can appear or show up at different ages.The disease has a progressive course, the outcome is chronic renal failure.

most widely considered the division of polycystic disease in the autosomal recessive type, which often manifests itself in infants and young children, often in conjunction with fibrosis of the liver, and an autosomal dominant pattern of inheritance, which is clinically more often after 30 years.Polycystic can be one of the clinical manifestations of multiple malformations, such as Meckel syndrome and Zellweger.

Autosomal dominant polycystic disease type disease has no clinical manifestations in children, the disease is usually seen in people aged

30-40 years.The main clinical manifestations: the allocation of blood in the urine (hematuria), pain in the kidney area, a pretty frequent companion is hypertension.Cystic kidney transformation is detected by ultrasound, confirmed by computed tomography.It should also be noted that the excretory pyelography reveals signs that allow to suppose the presence of cysts in the kidney tissue.

The majority of cystic transformation affects the proximal tubule, but it is possible the detection of cysts in other parts of the nephron.Typically, the disease progresses slowly and leads to the formation of chronic renal failure after 40 years of age.According to the European Association of dialysis and transplantation, autosomal dominant polycystic disease - one of the most common causes include genetic disorders that cause the need for replacement therapy for chronic renal failure in adults.

Concurrent use of ultrasound for the early detection of cysts in the kidney tissue and the use of molecular hybridization techniques for the detection of the mutant gene in people with suspected presence of the disease pointed to the high degree of correlation, which makes the ultrasound examination required and highly informative in families where there are patients with autosomal dominanttype polycystic disease (ACCA).

Often described by a combination of polycystic disease with the presence of stones in the urinary system.There are layers of infections of the urinary system.

polycystic kidney disease with an autosomal recessive mode of inheritance (ARRU)

The disease is quite rare.This version of polycystic disease in infants may be associated with respiratory distress syndrome.Externally, the children have a lot of small anomalies of development, at a palpation of the abdomen revealed a sharp increase in the kidneys.If moderate in severity of disease in the child gradually develop hypertension, portal hypertension syndrome, chronic renal failure.Enlarged kidneys are well identified during the ultrasound, excretory urography.However, due to their small size cysts are usually not visualized.

noted the changing nature of echogenicity, and when radiopaque kidney study can be detected accumulation of contrast medium in the collecting ducts.Dimensions of the liver increased, morphologically defined change intrahepatic bile ducts with periportal fibrosis.The progression of the disease and the development of chronic renal failure are associated with the formation of the first year of life, hyponatremia, and hypertension.

Another variant of autosomal recessive polycystic kidney disease is manifested in the age of about 2 years, but often referred to as congenital hepatic fibrosis, renal disorder.It is also called juvenile polycystic liver, kidneys and pancreas.The prevalence of symptoms in the clinical picture from one of the cystic changes of organs defines its development.

for autosomal recessive polycystic kidney disease type I is characterized by cystic Potter when cysts are localized mainly in the cortex, but may be located in the renal medulla.

In autosomal recessive disease recognized by the child, the parents kidney study did not reveal any abnormalities.Suspicion of this disease should occur in the presence of a child's congenital hepatic fibrosis.For the correct diagnosis should be excluded Meckel syndrome, Rong syndrome retinalnorenalnaya dysplasia, Ivemarka syndrome, as well as many other syndromes.

isolated cystic renal dysplasia can be seen as an independent pathology with repeated manifestations of risk in the family, does not exceed 10%.This indicates that genetic heterogeneity anomaly.

detection of dysplastic changes in the kidney of parents significantly increases the risk of re-birth of the sick child and requires the exclusion of a number of syndromes.

Nomenclature hereditary and congenital kidney disease and urinary tract

I. nephropathy and uropathy with anatomical anomalies of the structure of the kidneys and urinary organs:

1) the development of kidney malformations:

a) quantitative (lack, underdevelopment, extra kidney);

b) position (wrong position, the omission, rotation);

in) formal (horseshoe, S- and L-shaped kidney);

2) ureteral malformations (change in the number, size);

3) structural abnormality of the urinary bladder and urethra;

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

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

II.Disorders of the kidney:

1) cystic:

a) polycystic disease (autosomal dominant, autosomal recessive variants);

b) nefronoftiz Fanconi;Senior's syndrome;

in) Finnish type congenital nephrotic syndrome;

g) other types of cystic disease;

2) beskistoznye tissue dysplasia (developmental disorders):

a) oligonefroniya (oligomeganefroniya);

b) segmental dysplasia (Ask-Apmarka disease);

c) nephropathy associated with hypoplastic dysplasia;

3) of reflux nephropathy.

III.Hereditary nephritis:

1) without a hearing loss;

2) with deafness (Alport syndrome).

IV.Tubulopathy:

1) Primary:

a) polyuria (renal diabetes insipidus);

b) with bone deformation (phosphate diabetes, a disease tonic de Debre-Fanconi, renal tubular acidosis);2) secondary: the exchange of hereditary diseases.

V. Dizmetabolicheskie nephropathy crystalluria:

1) cystinuria, cystinosis;

2) hyperoxaluria;

3) uric acid (gout) nephropathy, urate diathesis.

VI.Nephrotoxicity and uropathy with chromosomal diseases.

VII.Amyloidosis: hereditary.

VIII.Embryonic tumors (including Wilms' tumor).