Adult Polycystic Kidney Disease - Symptoms

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.

Extrarenal symptoms of adult polycystic kidney disease

• Gastrointestinal:
  • cysts in the liver;
  • cysts in the pancreas;
  • intestinal diverticulum.
• Cardiovascular:
  • changes in heart valves;
  • intracerebral aneurysms;
  • aneurysms of the thoracic and abdominal aorta.

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Kidney symptoms of polycystic kidney disease

The first symptoms of polycystic kidney disease usually develop at about 40 years of age, but the onset of the disease can be both earlier (up to 8 years) and later (after 70 years). The most common clinical symptoms of polycystic kidney disease are abdominal (or back) pain and hematuria.

Abdominal pain occurs at an early stage of the disease, can be periodic or constant and vary in intensity. Sharp pain often forces patients to take a large number of analgesics, including NSAIDs, which in such a situation can contribute to the development of arterial hypertension and a decrease in renal function. Often, due to the intensity of pain, the administration of narcotic analgesics is required. The genesis of the pain syndrome is associated with stretching of the renal capsule.

Hematuria, more often microhematuria, is the second predominant symptom of polycystic kidney disease in adults. More than 1/3 of patients periodically experience episodes of macrohematuria. They are provoked by trauma or massive physical exertion. The frequency of macrohematuria episodes increases in patients with sharply enlarged kidneys and high arterial hypertension. The presence of these factors should be considered as a risk of renal bleeding. Other causes of hematuria include thinning or rupture of blood vessels in the cyst wall, renal infarction, infection, or passage of renal stones.

Arterial hypertension is detected in 60% of patients with polycystic kidney disease before chronic renal failure develops. Increased arterial pressure may be the first clinical sign of the disease and develop in adolescents; with increasing age, the incidence of arterial hypertension increases. A characteristic feature of arterial hypertension in polycystic kidney disease is the loss of the circadian rhythm of arterial pressure with the preservation of high values or even an increase in it at night and early morning hours. This nature of arterial hypertension and its long-term existence have a damaging effect on target organs: on the heart, causing the development of left ventricular hypertrophy and insufficiency of its blood supply, which creates a threat of myocardial infarction, as well as on the kidneys, significantly accelerating the rate of progression of renal failure.

The genesis of arterial hypertension is associated with ischemia, leading to activation of the RAAS and sodium retention in the body.

Proteinuria is usually expressed insignificantly (up to 1 g/day). Moderate and strong proteinuria accelerates the development of renal failure and worsens the long-term prognosis of patients.

Urinary tract infection complicates the course of the disease in approximately 50% of cases. It develops more often in women than in men. Urinary tract infection can manifest itself as cystitis and pyelonephritis. The development of high fever, increased pain, the appearance of pyuria without leukocyte casts, as well as insensitivity to standard therapy for pyelonephritis indicate the spread of inflammation to the contents of the renal cysts. In these situations, ultrasound data, gallium scanning, or CT scan of the kidneys help confirm the diagnosis.

Early signs of renal dysfunction include a decrease in the relative density of urine, the development of polyuria and nocturia.

Extrarenal symptoms of polycystic kidney disease and complications of polycystic kidney disease in adults

Along with kidney damage in polycystic disease, abnormalities in the structure of other organs are often detected.

Liver cysts are the most common (38-65%) extrarenal symptom of polycystic kidney disease. In most cases, liver cysts do not manifest clinically and do not affect the function of the organ.

With high frequency (up to 80% and more), especially in the stage of chronic renal failure, patients develop gastrointestinal tract damage. Compared to the general population, intestinal diverticula and hernias are detected 5 times more often with polycystic disease.

In 1/3 of patients with polycystic kidney disease, changes in the aortic and mitral heart valves are diagnosed, while damage to the tricuspid valve is rare.

In some cases, cysts of the ovaries, uterus, esophagus and brain are found.

The high (8-10%) frequency of cerebral vascular lesions with the development of aneurysms is noteworthy. This figure doubles if patients have a hereditary burden of cerebral vascular lesions.

Rupture of aneurysms with the development of subarachnoid hemorrhages is a common cause of death in these patients under the age of 50. The risk of aneurysm rupture increases as its size increases and is considered high for an aneurysm larger than 10 mm. The presence of such a formation is considered an indication for surgical treatment.

Currently, MRI of the brain is successfully used to diagnose cerebral vascular lesions in polycystic kidney disease. This method can diagnose cerebral vascular aneurysms smaller than 5 mm. The method is recommended as a screening method for examining individuals with a hereditary burden of cerebrovascular complications.

The most common complications of polycystic kidney disease are:

• bleeding into cysts or retroperitoneal space;
• cyst infection;
• formation of kidney stones;
• development of polycythemia.

Bleeding into cysts or the retroperitoneal space is clinically manifested by macrohematuria and pain syndrome. The causes of their development may be high arterial hypertension, physical exertion or abdominal trauma. Episodes of bleeding into cysts, if a protective regimen is followed, most often pass on their own. If bleeding into the retroperitoneal space is suspected, ultrasound diagnostics, computed tomography or angiography are performed, and if complications are confirmed, the issue is resolved surgically.

The main risk factor for renal cyst infection is urinary tract infection; less often, the source of infection is hematogenous infection. In the vast majority of cases, gram-negative flora is detected in cysts. The need for an antibacterial substance to penetrate into the cyst creates difficulties in treating infected cysts. Only lipophilic antibacterial drugs with a dissociation constant that allows the substance to penetrate into the acidic environment of the cyst within 1-2 weeks have such properties. These include fluoroquinolones (ciprofloxacin, levofloxacin, norfloxacin, ofloxacin) and chloramphenicol, as well as a combined sulfanilamide with trimethoprim - co-trimoxazole (trimethoprim-sulfamethoxazole). Aminoglycosides and penicillins penetrate cysts with difficulty, do not accumulate in them, and therefore these drugs are ineffective.

Nephrolithiasis complicates the course of polycystic kidney disease in more than 20% of patients. Most often, urate, oxalate or calcium stones are found in polycystic kidney disease. The reasons for their formation are disturbances in the metabolism and passage of urine.

A common complication of polycystic kidney disease is polycythemia. Its genesis is associated with excessive production of erythropoietin by the renal medulla.

Progression of renal failure

In the vast majority of patients with polycystic kidney disease, the functional state of the kidneys remains normal until the age of 30. In subsequent years, renal failure of varying degrees develops in almost 90% of cases. It has now been shown that the rate of progression of chronic renal failure is largely determined by genetic factors: the genotype of polycystic kidney disease, gender and race. Experimental and clinical studies show that with type 1 polycystic kidney disease, terminal renal failure develops 10-12 years earlier than with type 2 polycystic disease. In males, terminal renal failure develops 5-7 years faster than in women. A higher rate of progression of chronic renal failure is noted in African-Americans.

In addition to genetic features, arterial hypertension plays an important role in the progression of renal failure. The mechanism of the effect of high blood pressure on kidney function in polycystic kidney disease is no different from that in other renal pathologies.

It is very important for a doctor to be able to recognize the symptoms of polycystic kidney disease, since an incorrect diagnosis can cost the patient his life.