Polycystic kidney disease in adults

Autosomal dominant polycystic kidney disease in adults, or more commonly known as adult polycystic kidney disease, is an inherited kidney disorder characterized by the presence of multiple cysts in both kidneys.

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Epidemiology

This is the most common pathology from the group of polycystic kidney diseases. Its frequency in the population is approximately 1:1000 of the population, which corresponds to the detection of about 6000 new cases of the disease per year in countries such as Russia and the USA. The vast majority of patients with polycystic kidney disease develop renal failure. Among patients with uremia treated with chronic hemodialysis, patients with polycystic kidney disease make up an average of 8-10%.

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Causes adult polycystic kidney disease

Adult polycystic kidney disease is a genetically determined disease that is inherited in an autosomal dominant manner. This means that the probability of developing the disease in children whose parents suffer from polycystic kidney disease is 50%. There are no differences in the inheritance of the disease depending on whether the father or mother is a carrier of the pathological gene; equally, the disease is transmitted equally often to boys and girls.

Currently, three variants of polycystic kidney disease gene mutations have been identified: 80-85% of patients inherit the polycystic disease type 1 gene - PKD1 mutation in the short arm of chromosome 16; 10-15% have the polycystic disease type 2 gene - PKD2 mutation in chromosome 4. A new (newly identified and not yet deciphered) gene mutation is diagnosed in 5-10% of patients. The localization of gene disorders affects the natural course of polycystic disease in adults: type 1 is characterized by the fastest rate of development of renal failure, while types 2 and 3 have a favorable course of polycystic disease and the development of terminal renal failure occurs after 70 years.

How polycystic kidney disease occurs in adults and the mechanism of cyst formation have not yet been fully determined.

As a result of active study of the cellular mechanisms underlying cyst formation, the following key links in this process were identified:

• proliferation of tubular cells, leading to their obstruction, stretching and increased intratubular pressure;
• hereditary impaired extensibility of the tubular basement membrane, leading to dilation of the tubule even with normal intratubular pressure;
• excess fluid accumulation, which may be associated with a disruption in the polarity of the sodium pump and, as a result, the entry of sodium into the cyst rather than into the blood, as well as with the production of neutral fat bodies by the epithelial cells of the cysts, which contribute to the accumulation of fluid.

It has been shown that a number of factors provoke the development of polycystic kidney disease. Among them are chemical and medicinal substances: insecticides, food preservatives, diphenylamine, all antioxidants, lithium preparations, alloxan and streptozotocin, a number of antitumor drugs, including cisplatin, etc. In patients with the polycystic disease gene, the impact of the above factors is manifested by the earlier development of clinical manifestations of the disease.

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Symptoms adult polycystic kidney disease

Symptoms of polycystic kidney disease are divided into renal and extrarenal.

Kidney symptoms of adult polycystic kidney disease

• Acute and constant pain in the abdominal cavity.
• Hematuria (micro- or macrohematuria).
• Arterial hypertension.
• Urinary tract infection (bladder, renal parenchyma, cysts).
• Nephrolithiasis.
• Nephromegaly.
• Renal failure.

Diagnostics adult polycystic kidney disease

The diagnosis of "polycystic kidney disease in adults" is based on the typical clinical picture of the disease and the detection of changes in urine, arterial hypertension, renal failure in individuals with a burdened heredity for kidney disease. The diagnosis is confirmed by the data of the clinical examination of the patient - the detection of enlarged tuberous kidneys during palpation (their size can reach 40 cm) and the data of instrumental studies. The basis of instrumental diagnostics of this disease is the detection of cysts in the kidneys - the main clinical marker of polycystic kidney disease.

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Treatment adult polycystic kidney disease

At the present stage, adult polycystic kidney disease is not treated. Recently (early 2000), attempts were made to develop a pathogenetic approach to treatment within the framework of an experiment, considering this pathology from the standpoint of a neoplastic process. Treatment of mice with experimental polycystic disease with antitumor drugs (paclitaxel) and a tyrosine kinase inhibitor, inhibiting cell proliferation, led to inhibition of cyst formation and a reduction in existing cysts. These treatment methods are being tested experimentally and have not yet been introduced into clinical practice.