Adult Polycystic Kidney Disease - Diagnosis

Diagnosis of polycystic kidney disease in adults is carried out taking into account the typical clinical picture of the disease and detection of changes in urine, arterial hypertension, renal failure in individuals with a burdened heredity for kidney diseases. The diagnosis is confirmed by the data of the clinical examination of the patient - detection of enlarged tuberous kidneys during palpation (their size can reach 40 cm) and data from instrumental studies. The instrumental diagnosis of this disease is based on the detection of cysts in the kidneys - the main clinical marker of polycystic kidney disease. For this purpose, modern methods of diagnosing renal cysts are currently widely used: ultrasound, scintigraphy and computed tomography of the kidneys. Ultrasound and scintigraphy reveal cysts larger than 1.5 cm, CT - smaller ones - from 0.5 mm. Excretory urography is less preferable due to the nephrotoxicity of radiocontrast agents; Retrograde urography is not performed due to the high risk of spreading urinary infection and nephrotoxicity of the contrast agent. Due to the frequent detection of cysts in renal tissue not associated with this pathology, the following criteria are currently accepted for diagnosing polycystic kidney disease.

• For individuals with an adverse heredity, the diagnostic criterion is one of the following options for the ratio of the number of cysts in the kidneys and age, even in the absence of clinical manifestations of the disease:
  • the presence of 2 cysts in one or both kidneys in patients under 30 years of age;
  • the presence of 2 cysts in each kidney in patients aged 30-59 years;
  • the presence of at least 4 cysts in each kidney in patients over 60 years of age.
• For individuals without a genetic history, which occurs in approximately 25% of cases, the diagnosis is made based on the typical clinical picture of the disease, confirmed by data from an instrumental examination of the kidneys and the detection of the polycystic kidney disease gene.

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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.

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

Acquired polycystic kidney disease may develop in patients with progressive renal failure. As a rule, it manifests itself during treatment with chronic hemodialysis. There is a high risk of cysts degenerating into nephrocarcinoma.

Autosomal recessive polycystic kidney disease develops in newborns or young children. 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 the kidneys, liver, and often hepatosplenomegaly is detected. Kidney cysts are located in the area of the distal tubules and collecting ducts. Liver fibrosis is often complicated by the development of portal hypertension, esophageal and gastrointestinal bleeding.

Tuberous sclerosis is often associated with renal angiomyolipomas. Extrarenal manifestations are common: cardiac rhabdomyosarcoma (mainly in childhood); skin manifestations (95%); tumors of the cerebral cortex.

Hippel-Lindau disease is often accompanied by the development of tumors: retinal angiomas, CNS hemangiomas, multiple renal carcinomas, pheochromocytomas. Extrarenal cysts are often detected in the pancreas, liver, and epididymis.

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