Polycystic kidney disease in children

Autosomal recessive polycystic disease, also known as polycystic kidney disease in children or polycystic kidney disease in children, is a hereditary disease of newborns or infants, characterized by the development of multiple cysts in both kidneys and periportal fibrosis.

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Epidemiology

Polycystic kidney disease in children is a very rare disease: its incidence is 1: 6000-1: 40,000 live newborns. Polycystic kidney disease in children is inherited through an autosomal recessive pathway. The localization of gene damage has not yet been established.

[2], [3], [4], [5], [6], [7]

Causes of the polycystic kidney disease in children

With the development of the disease in newborns, cysts are formed in the region of the distal tubules and collecting tubes. Renal glomeruli, interchannel interstitium, calyx, pelvis and ureter remain intact. As a result, the radius in the area of the renal cortex reveals large cysts, which lead to a sharp increase in the size of the kidneys. If the pathological process develops later, in early childhood, then the number of cysts and their size decreases. In addition to the kidneys, the liver is involved in the pathological process. Morphological examination reveals the expansion of intrahepatic bile ducts, a picture of periportal fibrosis. The causes and pathogenesis of polycystic kidneys in children have not been adequately studied.

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Symptoms of the polycystic kidney disease in children

Depending on the age of the children, in which the first symptoms of polycystic kidney disease in children appeared, four groups were identified: perinatal, neonatal, early childhood and juvenile. The groups differ significantly in the clinical picture and in the prognosis of the disease. With perinatal and neonatal development of the disease in newborns, 90% of the kidney tissue is replaced by cysts, which leads to a sharp increase in the kidneys and, correspondingly, to the volume of the stomach. Children develop rapidly progressive renal failure, but the cause of death (which occurs within a few days after birth) is respiratory distress syndrome due to lung hypoplasia and pneumothorax.

With the development of polycystic kidneys in children in early childhood (from 3 to 6 months) and juvenile age (from 6 months to 5 years), the number of cysts is much smaller, but signs of liver pathology appear. In these children, clinical examination reveals an increase in the size of the kidneys, the liver, and often hepatosplenomegaly. The most frequent symptoms of polycystic kidney disease in children are persistent high  arterial hypertension, urinary tract infection. Gradually, kidney failure develops, manifested by impaired renal function, development of anemia, osteodystrophy and a significant lag in the child's growth. At the same time, there are manifestations of hepatic fibrosis, which is often complicated by esophagal and gastrointestinal hemorrhages, the development of portal hypertension.

Prognosis in patients of early childhood and juvenile age is significantly better than in children of the neonatal or perinatal group: death occurs in 2-15 years from the onset of the disease. In recent studies, it has been shown that with active symptomatic treatment, children who survived the first 78 months of life experience an age of 15 years. The causes of death in children with polycystic kidney disease are renal failure or complications of liver failure.

Diagnostics of the polycystic kidney disease in children

Diagnosis of polycystic kidneys of children is based on a typical clinical picture of the disease, the diagnosis is confirmed by instrumental examination data -  ultrasound, scintigraphy and CT of kidneys and liver. Often, puncture liver biopsy is used to clarify the liver pathology.

[12], [13], [14]

Treatment of the polycystic kidney disease in children

Specific treatment of polycystic kidneys is absent. With its development in early childhood or juvenile age, therapeutic measures are aimed at inhibiting the progression of renal and hepatic insufficiency. In this regard, the focus is on the treatment of arterial hypertension and urinary tract infections. Treatment of advanced chronic renal failure is generally accepted and has no specific characteristics (see Chronic Renal Failure). In the development of complications of periportal cirrhosis (portal hypertension), recent years have successfully used portocaval or splenorenal shunting. Patients with terminal chronic renal failure and severe renal failure are recommended combined liver transplantation and kidney transplantation.