Polycystic kidney disease (PKD)
What is it?
Polycystic kidney disease, identified by the acronym ADPKD (Autosomic Dominant Kidney Disease), is an autosomal dominant, chronic, multisystem, progressive genetic disease affecting over 13 million people worldwide (60,000 in Italy alone). The disease is characterised by the development and enlargement of multiple cysts in both kidneys. The cysts are often accompanied by abnormalities of the blood vessels, liver, pancreas and heart. It is the most common hereditary kidney disease and is responsible for 5-10% of cases of end-stage chronic renal failure. Over the years, however, medical advances have improved the diagnosis, monitoring and treatment of this disease, and it is now possible to offer better support to patients and their families.
Which are the symptoms?
The clinical manifestations of this condition such as pain (in the back and/or sides of the abdomen), hematuria, hypertension, and progression of renal failure correlate with the severity of structural changes in the number and size of renal cysts. The progressive appearance of renal cysts leads to progressive enlargement of the kidneys, which may increase to ten times their normal size. This enlargement can lead, especially in advanced stages of the disease, to compression disorders of adjacent anatomical structures. The patient may then have symptoms such as difficulty breathing, eating, digesting, until it becomes complicated to carry out activities of daily living. Complications of the disease include possible hemorrhage or infection of renal cysts, occasionally rupture of a cyst may result in severe overinfection (pyelonephritis, abscesses) or bleeding that may require the use of blood transfusions. Arterial hypertension is a frequent manifestation (50-70% cases), the prevalence of which increases proggressively with age. Extrarenal manifestations of the disease include: hepatic polycystosis which is the most frequent extrarenal manifestation, intracranial aneurysms (in 10% cases), cardiac involvement with left ventricular hypertrophy, pancreatic cysts (in 8% cases), abdominal hernias and colonic diverticulosis.
- pain in the back and sides of the abdomen
- sense of gastric fullness
- blood in the urine
- burning and pain during urination
How is it diagnosed?
For family members of people with ADPKD, presymptomatic screening is indicated by ultrasound and sequencing of the two underlying genes (PKD1 and PKD2). To this end, specialised nephrological examinations are carried out in our outpatient clinic in cooperation with the medical genetics service. In addition, a team of doctors and nurses takes care of the patient with a comprehensive approach that takes into account the clinical, psychological and family issues associated with the disease.
How is it treated?
Current treatments are aimed at combating renal and extrarenal complications. In addition, therapy to slow down the development of cysts has recently become available for patients at risk of developing end-stage renal failure. Adequate blood pressure control and restriction of various factors such as caffeine, smoking, protein and salt intake have a positive effect on the progression of the disease.
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