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Polycystic kidney disease in children
Last reviewed: 12.07.2025
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Autosomal recessive polycystic kidney disease, also known as childhood polycystic kidney disease or polycystic kidney disease, is an inherited disorder of newborns or young children characterized by the development of multiple cysts in both kidneys and periportal fibrosis.
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Epidemiology
Causes polycystic kidney disease in children
As the disease develops in newborns, cysts form in the area of the distal tubules and collecting ducts. The renal glomeruli, intertubular interstitium, calyces, pelvis and ureters remain intact. As a result, large cysts are detected along the radius in the area of the renal cortex, which lead to a sharp increase in the size of the kidneys. If the pathological process develops later, in early childhood, then both the number of cysts and their size decrease. In addition to the kidneys, the liver is involved in the pathological process. Morphological examination reveals dilation of the intrahepatic bile ducts, a picture of periportal fibrosis. The causes and pathogenesis of polycystic kidney disease in children have not been sufficiently studied.
Symptoms polycystic kidney disease in children
Depending on the age of the children at which the first symptoms of polycystic kidney disease in children appeared, 4 groups are distinguished - perinatal, neonatal, early childhood and juvenile. The groups differ significantly in the clinical picture and prognosis of the disease. In 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, accordingly, the volume of the abdomen. In children, rapidly progressing renal failure is detected, but the cause of death (which occurs within a few days after birth) is respiratory distress syndrome due to pulmonary hypoplasia and pneumothorax.
In the development of polycystic kidney disease in children in early childhood (3 to 6 months) and juvenile age (6 months to 5 years), the number of cysts is significantly smaller, but signs of liver pathology appear. In these children, clinical examination reveals an increase in the size of the kidneys, liver, and often hepatosplenomegaly. The most common symptoms of polycystic kidney disease in children are persistent high arterial hypertension and urinary tract infection. Renal failure gradually develops, manifested by impaired depuration function of the kidneys, the development of anemia, osteodystrophy, and significant growth retardation of the child. At the same time, manifestations of liver fibrosis are detected, which is often complicated by esophageal and gastrointestinal bleeding, the development of portal hypertension.
The prognosis for patients of early childhood and juvenile age is significantly better than for children of neonatal or perinatal group: death occurs 2-15 years after the onset of the disease. Recent studies have shown that with active symptomatic treatment, children who have survived the first 78 months of life survive the age of 15. The causes of death in children with polycystic kidney disease are renal failure or complications of liver failure.
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Diagnostics polycystic kidney disease in children
Diagnosis of polycystic kidney disease in children is based on the typical clinical picture of the disease, the diagnosis is confirmed by instrumental examination data - ultrasound, scintigraphy and CT of the kidneys and liver. Often, a puncture biopsy of the liver is used to clarify liver pathology.
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Treatment polycystic kidney disease in children
There is no specific treatment for polycystic kidney disease in children. When it develops in early childhood or juvenile age, therapeutic measures are aimed at slowing the progression of renal and hepatic failure. In this regard, the main focus is on the treatment of arterial hypertension and urinary tract infections. Treatment of developed chronic renal failure is generally accepted and has no specific features (see "Chronic renal failure"). In the development of complications of periportal cirrhosis (portal hypertension), portocaval or splenorenal shunting has been successfully used in recent years. Combined liver transplantation and kidney transplantation are recommended for patients with terminal chronic renal failure and severe renal failure.