Adult polycystic kidney disease: diagnosis

Diagnostics of polycystic kidneys of adults is carried out taking into account a typical clinical picture of the disease and detecting changes in urine, hypertension, renal failure in persons with hereditary heredity for kidney disease. Confirm the diagnosis of the clinical examination of the patient - the detection of palpation of enlarged tuberous kidneys (their value can reach 40 cm) and data of instrumental research. At the heart of instrumental diagnosis of this disease lies the detection of cysts in the kidney - the main clinical marker of polycystic kidney disease. To this end, modern methods of diagnosing renal cysts are being widely used: ultrasound, scintigraphy and computed tomography of the kidneys. With ultrasound and scintigraphy, cysts larger than 1.5 cm are identified, with CT being smaller - from 0.5 mm. Excretory urography is less preferable due to the nephrotoxicity of X-ray contrast substances; retrograde urography is not carried out because of the high risk of spreading the urinary infection and nephrotoxicity of the contrast drug. In view of the frequent, non-associated pathology of the detection of cysts in the renal tissue, the following criteria have been adopted for the diagnosis of polycystic kidney disease.

• For persons with a hereditary burden, the diagnosis criterion is one of the following variants of the ratio of the number of cysts in the kidneys and age, even in the absence of clinical manifestations of the disease:
  • presence of 2 cysts in one or both kidneys in patients under the age of 30;
  • presence of 2 cysts in each kidney at the age of 30-59 years;
  • The difference is not less than 4 cysts in each kidney in patients older than 60 years.
• For people without a genetic anamnesis, which occurs in about 25% of cases, the diagnosis is made on the basis of a typical clinic of the disease, with evidence from the instrumental examination of the kidneys and the detection of the polycystic kidney gene.

[1], [2], [3], [4], [5]

Differential diagnosis of polycystic kidney disease in adults

Differential diagnosis of polycystic kidney disease is carried out with diseases from the group of cystic kidney diseases.

With the development of multiple simple cysts, the course of the disease is usually asymptomatic, and the detection of cysts during instrumental examination is not motivated by complaints of the patient. The presence of cysts in the kidneys does not affect the functions of the organ. Cysts are not inherited.

Acquired polycystic kidney disease can develop in patients with progressive renal failure. As a rule, it is manifested in the treatment of chronic hemodialysis. There is a high risk of degeneration of cysts in nephrocarcinoma.

Autosomal-reciprocal polycystic kidney disease develops in newborns or children at an early age. The development of multiple cysts in both kidneys is combined with liver damage - the development of periportal fibrosis. In autosomal recessive polycystic kidney disease, a sharp increase in kidney, liver, and often hepatosplenomegaly is revealed. Kidney cysts are located in the area of the distal tubules and collecting tubules. Hepatic fibrosis is often complicated by the development of portal hypertension, esophageal and gastrointestinal bleeding.

Tubercle sclerosis is often combined with renal angiomyolipomas. Frequent extrarenal manifestations: rhabdomyosarcoma of the heart (mainly in childhood); skin manifestations (95%); tumors of the cerebral cortex.

Hippel-Lindau disease is often accompanied by the development of tumors: retinal angioma, CNS hemangioma, multiple renal carcinomas, pheochromocytoma. Often, extrarenal cysts are detected in the pancreas, liver, epididymis.

[6], [7], [8]